1,5 anhydroglucitol measurement	EFO_0008009	quantification of the amount of 1,5 anydroglucitol in a sample	N/A
15q13.3 microdeletion syndrome	Orphanet_199318	15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.	Del(15)(q13.3);Monosomy 15q13.3
22q11.2 deletion syndrome	Orphanet_567	22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.	22q11DS;CATCH 22;Cayler cardiofacial syndrome;Conotruncal anomaly face syndrome;DiGeorge sequence;DiGeorge syndrome;Microdeletion 22q11.2;Monosomy 22q11;Sedlackova syndrome;Shprintzen syndrome;Takao syndrome;Velocardiofacial syndrome
293t	EFO_0001082	N/A	N/A
3t3-l1	EFO_0001084	N/A	N/A
5-hiaa measurement	EFO_0005132	quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid or urine. 5-HIAA is a metabolite of serotonin. This measurement is performed during diagnosis of serotonin secreting neuroendocrine tumours. Low levels of 5-HIAA in the cerebrospinal fluid have been associated with aggressive behavior and suicide by violent means, correlating with diminished serotonin levels.Elevated serotonin (hyperserotonemia) is one of the most common biological findings in autism[3] and 5-HIAA may be elevated in patients with autistic spectrum disorders.	5-Hydroxyindoleacetic acid measurement
A1c measurement	EFO_0004541	An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months.	HbA1c levels;glycated hemoglobin levels;glycosylated Haemoglobin A level;glycosylated Hemoglobin A level
Abdominal and pelvic region disorder	MONDO_0044965	A disease or disorder that involves the abdominal segment of trunk.	abdominal segment of trunk disease;abdominal segment of trunk disease or disorder;disease of abdominal segment of trunk;disease or disorder of abdominal segment of trunk;disorder of abdominal segment of trunk
Abdominal aortic aneurysm	EFO_0004214	An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm.;Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.	Aortic Aneurysm, Abdominal;abdominal aortic aneurysm;aortic aneurysm, familial abdominal 1
Abdominal symptom	HP_0011458	N/A	N/A
Abnormal erythrocyte morphology	HP_0001877	Any structural abnormality of erythrocytes (red-blood cells).	abnormality of red blood cells||Abnormality of erythrocytes
Abnormal eye movements	Orphanet_98691	N/A	N/A
Abnormal glucose homeostasis	HP_0011014	Abnormality of glucose homeostasis.	N/A
Abnormal inflammatory response	HP_0012647	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. [ MONARCH:mhaendel ]	abnormal inflammatory response
Abnormal intestine morphology	HP_0002242	An abnormality of the `intestine` (FMA:7199). The closely related term enteropathy is used to refer to any disease of the intestine.	Enteropathy
Abnormality of blood and blood-forming tissues	HP_0001871	An abnormality of the hematopoietic system.	abnormality of the hematopoietic system;hematological abnormality
Abnormality of blood glucose concentration	HP_0011015	An abnormality of the concentration of glucose in the blood.	N/A
Abnormality of brain morphology	HP_0012443	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.	N/A
Abnormality of carbohydrate metabolism/homeostasis	HP_0011013	An abnormality of the metabolism/homeostasis of a carbohydrate.	N/A
Abnormality of cardiovascular system morphology	HP_0030680	Any structural anomaly of the heart and great vessels.	N/A
Abnormality of central motor function	HP_0011442	An anomaly of the control or production of movement in the central nervous system.	N/A
Abnormality of connective tissue	HP_0003549	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).	N/A
Abnormality of facial skeleton	HP_0011821	An abnormality of one or more of the set of bones that make up the facial skeleton. [ DDD:awilkie ]	Anomaly of facial skeleton
Abnormality of female internal genitalia	HP_0000008	An abnormality of the female internal genitalia.	N/A
Abnormality of head or neck	HP_0000152	An abnormality of head and neck. [ HPO:probinson ]	Head and neck abnormality
Abnormality of higher mental function	HP_0011446	Cognitive, psychiatric or memory anomaly.	N/A
Abnormality of lipid metabolism	HP_0003119	An abnormality in the of lipid metabolism.	N/A
Abnormality of metabolism/homeostasis	HP_0001939	N/A	N/A
Abnormality of movement	HP_0100022	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.	abnormality of movement;movement disorder;unusual movement
Abnormality of muscle physiology	HP_0011804	A functional abnormality of a skeletal muscle.	N/A
Abnormality of nervous system physiology	HP_0012638	A functional anomaly of the nervous system.	N/A
Abnormality of prenatal development or birth	HP_0001197	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.	Abnormality of prenatal development or birth
Abnormality of refraction	HP_0000539	An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.	N/A
Abnormality of skeletal morphology	HP_0011842	An abnormality of the form, structure, or size of the skeletal system.	Abnormally shaped skeletal
Abnormality of temperature regulation	HP_0004370	An abnormality of temperature homeostasis.	N/A
Abnormality of the abdominal organs	HP_0002012	An abnormality of the viscera of the abdomen. [ HPO:probinson ]	Gastrointestinal tract defects
Abnormality of the bladder	HP_0000014	An abnormality of the urinary bladder.	N/A
Abnormality of the cardiovascular system	HP_0001626	Any abnormality of the `cardiovascular system` (FMA:7161).	Abnormal phenotype of the cardiovascular system;Cardiovascular Abnormalities
Abnormality of the cerebral white matter	HP_0002500	An abnormality of the cerebral white matter.	Abnormality of subcortical white matter;Cerebral white matter abnormalities;Leukoaraiosis;White matter abnormalities;White matter alterations
Abnormality of the digestive system	HP_0025031	N/A	N/A
Abnormality of the ear	HP_0000598	An abnormality of the ear.	Ear anomaly
Abnormality of the endocrine system	HP_0000818	An abnormality of the endocrine system.	N/A
Abnormality of the eye	HP_0000478	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.	Abnormal eye;Abnormality of the eye
Abnormality of the face	HP_0000271	An abnormality of the face.	Abnormal face;Abnormality of the face;Facial abnormality
Abnormality of the gastrointestinal tract	HP_0011024	An abnormality of the gastrointestinal tract.	N/A
Abnormality of the genital system	HP_0000078	An abnormality of the genital system.	Genital abnormalities;Genital abnormality;Genital anomalies;Genital defects
Abnormality of the head	HP_0000234	An abnormality of the head. [ HPO:probinson ]	Abnormal head;Abnormality of the head;Head abnormality
Abnormality of the immune system	HP_0002715	An abnormality of the immune system. The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.	N/A
Abnormality of the integument	HP_0001574	An abnormality of the integument, which consists of the skin and the superficial fascia.	N/A
Abnormality of the lens	HP_0000517	An abnormality of the lens.	abnormality of the lens;lens issue
Abnormality of the liver	HP_0001392	An abnormality of the liver.	Liver abnormality
Abnormality of the mandible	HP_0000277	Any abnormality of the mandible, the bone of the lower jaw. [ HPO:probinson ]	Abnormality of the lower jaw bone
Abnormality of the mouth	HP_0000153	An abnormality of the mouth	N/A
Abnormality of the musculature	HP_0003011	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.	Muscular abnormality
Abnormality of the nervous system	HP_0000707	A structural anomaly of the nervous system.	N/A
Abnormality of the respiratory system	HP_0002086	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.	Respiratory abnormality
Abnormality of the skeletal system	HP_0000924	An abnormality of the skeletal system.	N/A
Abnormality of the skin	HP_0000951	An abnormality of the skin.	dermatopathy;dermopathy
Abnormality of the skull	HP_0000929	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. [ HPO:probinson ]	N/A
Abnormality of the urinary system	HP_0000079	An abnormality of the urinary system.	Urinary tract abnormalities;Urinary tract abnormality;Urinary tract anomalies
Abnormality of the urinary system physiology	HP_0011277	N/A	N/A
Abnormality of the vasculature	HP_0002597	An abnormality of the `vasculature` (FMA:69050).	Vascular abnormalities
Abnormality of urine homeostasis	HP_0003110	An abnormality of the composition of urine or the levels of its components.	Pee issues;Urine issues
Abnormality of vitamin metabolism	HP_0100508	N/A	N/A
Abnormal jaw morphology	HP_0030791	A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.	N/A
Abnormal lung morphology	HP_0002088	Any structural anomaly of the lung.	Abnormality of lung morphology;Abnormality of the lungs;Abnormally shaped lung;Unusal lung shape
Abnormal renal physiology	HP_0012211	An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `kidney` (FMA:7203).	Abnormality of renal physiology;Renal functional abnormality
Abnormal thrombosis	HP_0001977	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).	Abnormal blood clot
Abortion	EFO_1001491	the ending of pregnancy by removing a fetus or embryo before it can survive outside the uterus.	loss of pregnancy
Acne	EFO_0003894	A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.;An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.	Acne Vulgaris;acne;acne (disease);acne varioliformis;acne vulgaris;frontalis acne
Acquired amyloid peripheral neuropathy	MONDO_0016179	N/A	N/A
Acquired long qt syndrome	EFO_0005138	A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome.	N/A
Acquired metabolic disease	EFO_1000639	A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption;An instance of metabolic disease that is acquired during the lifetime of the individual.	acquired metabolic disease
Acquired neuromuscular junction disease	MONDO_0020125	An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.	acquired neuromuscular junction disease
Acquired peripheral neuropathy	MONDO_0015923	An instance of peripheral neuropathy that is acquired during the lifetime of the individual.	acquired peripheral neuropathy
Acquired skeletal muscle disease	MONDO_0016105	An instance of skeletal muscle disease that is acquired during the lifetime of the individual.	acquired skeletal muscle disease
Acromegaly	EFO_1001485	Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.	acromegaly
Acute and subacute inflammatory demyelinating polyneuropathy	MONDO_0016137	N/A	acute and subacute inflammatory demyelinating polyradiculoneuropathy
Acute coronary syndrome	EFO_0005672	A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.;Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.	acute coronary syndrome
Acute disease	MONDO_0020683	Disease having a short and relatively severe course.	acute disease
Acute disseminated encephalomyelitis	EFO_0007130	Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.;An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.	ADEM;Encephalomyelitis, Acute Disseminated;acute Disseminated Encephalomyelitis;acute disseminated encephalitis;acute disseminated encephalomyelitis;acute disseminated encephalomyelitis (disorder)
Acute erythroleukemia	EFO_0000218	An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)	AC ERTH/ERLK WO ACH RMSN;ACT ERTH/ERYLK W/O RMSON;AEL;AML M6;Acute erythremia and erythroleukemia without mention of having achieved remission;Acute erythremia and erythroleukemia without mention of remission;Erythroleukemia;FAB M6;M6 acute myeloid leukemia;acute erythremia and erythroleukemia;acute erythroblastic leukemia;acute erythroid leukemia;acute myeloid leukemia M6;erythroblastic leukemia;leukemia, erythroid, malignant
Acute graft vs. host disease	EFO_0004599	Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft.	acute graft vs. host disease
Acute kidney failure	MONDO_0002492	Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.	AKI;ARF;acute kidney injury;acute renal failure;kidney failure, acute
Acute kidney injury	HP_0001919	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).	AKI;ARF;Acute Kidney Insufficiency;Acute Renal Injury;Acute Renal Insufficiency;Acute kidney failure;Acute renal failure;Kidney Failure, Acute;Kidney Insufficiency, Acute;Renal Failure, Acute;Renal Insufficiency, Acute
Acute kidney tubular necrosis	EFO_1000794	Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA.;Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.	ATN - acute tubular necrosis;Kidney Tubular Necrosis, Acute;acute kidney tubular necrosis;acute renal Failure with tubular necrosis;acute renal failure with lesion of tubular necrosis;acute renal failure with tubular necrosis;acute tubular necrosis;acute tubule necrosis
Acute leukemia	EFO_1000068	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).	acute leukemia;acute leukemia (disease);stem cell leukaemia;stem cell leukemia;stem cell leukemia (disease)
Acute leukemia of ambiguous lineage	MONDO_0019460	An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)	acute leukemia of ambiguous lineage;acute leukemia of indeterminate lineage;hybrid acute leukemia;mixed lineage acute leukemia;mixed phenotype acute leukemia
Acute liver failure	Orphanet_90062	N/A	Acute hepatic failure;Fulminant hepatic failure
Acute lung injury	EFO_0004610	A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).;Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis.	ALI;acute lung injury
Acute lymphoblastic leukemia	EFO_0000220	A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.;A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.;Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood.  It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.;Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood.  It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia.;Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.;When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.	AC LYM LEUK WO ACHV RMSN;ACT LYM LEUK W/O RMSION;ALL;ALL - Acute Lymphocytic Leukemia;ALL - Acute lymphoblastic leukaemia;ALL - Acute lymphoblastic leukemia;ALL - acute lymphocytic leukemia;ALL, Childhood;Acute Lymphocytic Leukaemia;Acute Lymphocytic Leukemia;Acute Lymphocytic Leukemias;Acute Lymphogenous Leukemia;Acute lymphatic leukaemia;Acute lymphatic leukaemia, L2 type;Acute lymphatic leukemia;Acute lymphatic leukemia, L2 type;Acute lymphoblastic leukaemia;Acute lymphoblastic leukaemia, L2 type;Acute lymphoblastic leukaemia, precursor-cell type;Acute lymphoblastic leukaemia-lymphoma;Acute lymphoblastic leukemia, L2 type;Acute lymphoblastic leukemia, precursor-cell type;Acute lymphoblastic leukemia-lymphoma;Acute lymphocytic leukaemia, L2 type;Acute lymphocytic leukemia, L2 type;Acute lymphoid leukaemia;Acute lymphoid leukaemia, L2 type;Acute lymphoid leukaemia, disease;Acute lymphoid leukemia;Acute lymphoid leukemia without mention of having achieved remission;Acute lymphoid leukemia without mention of remission;Acute lymphoid leukemia, L2 type;Acute lymphoid leukemia, disease;Acute lymphoid leukemia, disease (disorder);Childhood ALL;FAB L2;L1 Lymphocytic Leukemia;L2 Lymphocytic Leukemia;Leukemia, Acute Lymphoblastic;Leukemia, Acute Lymphocytic;Leukemia, Acute Lymphoid;Leukemia, L1 Lymphocytic;Leukemia, L2 Lymphocytic;Leukemia, Lymphoblastic;Leukemia, Lymphoblastic, Acute;Leukemia, Lymphoblastic, Acute, L1;Leukemia, Lymphoblastic, Acute, L2;Leukemia, Lymphoblastic, Acute, Philadelphia-Positive;Leukemia, Lymphocytic, Acute;Leukemia, Lymphocytic, Acute, L1;Leukemia, Lymphocytic, Acute, L2;Leukemia, Lymphoid, Acute;Leukemia, Pre B Cell;Leukemia, Pre-B-Cell;Leukemias, Pre-B-Cell;Lymphoblastic Leukemia, Acute;Lymphoblastic Leukemia, Acute, Adult;Lymphoblastic Leukemia, Acute, Childhood;Lymphoblastic Leukemia, Acute, L1;Lymphoblastic Leukemia, Acute, L2;Lymphoblastic leukaemia, L2 type;Lymphoblastic leukemia, L2 type;Lymphocytic Leukemia, Acute;Lymphocytic Leukemia, L1;Lymphocytic Leukemia, L2;Lymphoid Leukemia, Acute;Pre B ALL;Pre B Cell Leukemia;Pre B-ALL;Pre-B ALL;Pre-B-Cell Leukemia;Pre-B-Cell Leukemias;Precursor B Cell Lymphoblastic Leukemia;Precursor B Cell Lymphoblastic Leukemia Lymphoma;Precursor B Cell Lymphoblastic Lymphoma;Precursor B-Cell Lymphoblastic Leukemia;Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;Precursor B-Cell Lymphoblastic Lymphoma;Precursor Cell Lymphoblastic Leukemia Lymphoma;Precursor Cell Lymphoblastic Leukemia-Lymphoma;Precursor Lymphoblastic Leukemia;Precursor cell lymphoblastic leukaemia;Precursor cell lymphoblastic leukaemia, not phenotyped;Precursor cell lymphoblastic leukemia;Precursor cell lymphoblastic leukemia (morphologic abnormality);Precursor cell lymphoblastic leukemia, no ICD-O subtype (morphologic abnormality);Precursor cell lymphoblastic leukemia, not phenotyped;[M]Acute lymphoid leukaemia;[M]Acute lymphoid leukemia;[M]Acute lymphoid leukemia (morphologic abnormality);acute lymphoblastic leukemia;acute lymphoblastic leukemia (ALL);acute lymphoblastic leukemia (disease);acute lymphoblastic leukemia/lymphoma;acute lymphocytic leukaemia;acute lymphocytic leukemia;acute lymphocytic leukemias;acute lymphogenous leukemia;acute lymphoid leukemia;leukemia, lymphoblastic, malignant;lymphoblastic leukemia;lymphoblastic leukemia, acute;precursor Lymphoblasic leukemia;precursor cell lymphoblastic leukemia;precursor lymphoblastic leukemia
Acute megakaryoblastic leukaemia	EFO_0003025	Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML; see this term) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis (see this term)may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.;Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British classification.[2]This category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy. In adults, include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy, and short clinical course. In children, the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7.In the first three years of life, megakaryoblastic leukemia is the most common type of leukemia in patients with Down syndrome.	AMKL;AML M7;Acute M7 Myeloid Leukemia;Acute Megakaryoblastic Leukemia;Acute Megakaryoblastic Leukemia (FAB Type M7);Acute Megakaryocytic Leukemia;FAB M7;LEUKEMIA, MEGAKARYOCYTIC, MALIGNANT;acute M7 myeloid leukemia;acute megakaryoblastic leukaemia;acute megakaryoblastic leukaemia, FAB M7;acute megakaryoblastic leukemia;acute megakaryoblastic leukemia (FAB type M7);acute megakaryoblastic leukemia, FAB M7;acute megakaryocytic leukemia;acute megakaryocytic leukemias;acute myeloid leukemia M7;leukemia, megakaryocytic, malignant;megakaryocytic myelosis;thrombocytic leukaemia
Acute monocytic leukemia	EFO_0000221	Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).;An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES.	AML M5;Acute Monoblastic Leukemias;Acute Monocytic Leukemias;LEUKEMIA MYELOID ACUTE M 05;Leukemia, Acute Monoblastic;Leukemia, Acute Monocytic;Leukemia, Monoblastic, Acute;Leukemia, Monocytic, Acute;Leukemia, Myeloid, Acute, M5;Leukemia, Myeloid, Schilling Type;Leukemia, Myeloid, Schilling-Type;Leukemia, Schilling-Type Myeloid;Leukemias, Acute Monoblastic;Leukemias, Acute Monocytic;MYELOID LEUKEMIA ACUTE M 05;Monoblastic Leukemia, Acute;Monoblastic Leukemias, Acute;Monocytic Leukemias, Acute;Monocytic leukemia, acute;Myeloid Leukemia, Acute, M5;Myeloid Leukemia, Schilling Type;Myeloid Leukemia, Schilling-Type;Schilling-Type Myeloid Leukemia;acute Monoblastic Leukemia and acute Monocytic Leukemia;acute monoblastic leukemia;acute monoblastic leukemia (disorder);acute monoblastic leukemia and acute monocytic leukemia;acute monocytic leukaemia;acute monocytic leukemia;acute monocytic leukemia (FAB M5B);acute monocytic leukemia (FAB M5b);acute monocytic leukemia without mention of remission;acute monocytic leukemia, FAB M5;acute monocytic leukemia, FAB M5 (disorder);acute monocytic leukemia, morphology;acute monocytic leukemia, morphology (morphologic abnormality);leukemia, monocytic, malignant;monocytic leukemia;monocytic leukemia, acute
Acute myeloid leukemia	EFO_0000222	Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.;Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.	AML;AML - acute Myeloid Leukemia;AML - acute myeloid leukemia;ANLL;ANLL in Remission;Acute Myeloblastic Leukemia;Acute Myeloblastic Leukemias;Acute Myelocytic Leukemia;Acute Myelocytic Leukemias;Acute Myelogenous Leukemia;Acute Myelogenous Leukemias;Acute Myeloid Leukemia with Maturation;Acute Myeloid Leukemia without Maturation;Acute Myeloid Leukemias;Acute Nonlymphoblastic Leukemia;Acute Nonlymphoblastic Leukemias;Acute Nonlymphocytic Leukemia;Acute Nonlymphocytic Leukemias;Leukemia, Acute Myeloblastic;Leukemia, Acute Myelocytic;Leukemia, Acute Myelogenous;Leukemia, Acute Myeloid;Leukemia, Acute Nonlymphoblastic;Leukemia, Acute Nonlymphocytic;Leukemia, Myeloblastic, Acute;Leukemia, Myelocytic, Acute;Leukemia, Myelogenous, Acute;Leukemia, Myeloid, Acute;Leukemia, Myeloid, Acute, M1;Leukemia, Myeloid, Acute, M2;Leukemia, Nonlymphoblastic, Acute;Leukemia, Nonlymphocytic, Acute;Leukemias, Acute Myeloblastic;Leukemias, Acute Myelocytic;Leukemias, Acute Myelogenous;Leukemias, Acute Myeloid;Leukemias, Acute Nonlymphoblastic;Leukemias, Acute Nonlymphocytic;Myeloblastic Leukemia, Acute;Myeloblastic Leukemias, Acute;Myelocytic Leukemia, Acute;Myelocytic Leukemias, Acute;Myelogenous Leukemia, Acute;Myelogenous Leukemias, Acute;Myeloid Leukemia, Acute;Myeloid Leukemia, Acute, M1;Myeloid Leukemia, Acute, M2;Myeloid Leukemias, Acute;Nonlymphoblastic Leukemia, Acute;Nonlymphoblastic Leukemias, Acute;Nonlymphocytic Leukemia, Acute;Nonlymphocytic Leukemias, Acute;acute Nonlymphocytic leukemia;acute granulocytic leukemia;acute myeloblastic leukemia;acute myeloblastic leukemia (disorder);acute myelocytic leukemia;acute myelogenous leukemia;acute myelogenous leukemias;acute myeloid leukaemia;acute myeloid leukaemia - category;acute myeloid leukaemia, disease;acute myeloid leukemia;acute myeloid leukemia (AML);acute myeloid leukemia in remission;acute myeloid leukemia in remission (disorder);acute myeloid leukemia without mention of remission;acute non-lymphocytic leukaemia;acute nonlymphocytic leukemia;hematopoeitic - acute Myleogenous leukemia (AML);leukemia, myelocytic, acute;myeloid leukemia, acute
Acute myeloid leukemia with recurrent genetic anomaly	MONDO_0020078	A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)	AML with recurrent Genetic abnormalities;AML with recurrent genetic anomaly;acute myeloid Leukemia with balanced Translocations/Inversions;acute myeloid Leukemia with recurrent Genetic abnormalities
Acute-on-chronic liver failure	EFO_0007949	Acute-on-chronic liver failure (ACLF) is an extreme condition during the natural history of chronic HBV infection, with a relatively high short-term mortality.	N/A
Acute pancreatitis	EFO_1000652	An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.;a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment. While mild cases are often successfully treated with conservative measures, such as fasting and aggressive intravenous fluid rehydration, severe cases may require admission to the intensive care unit or even surgery to deal with complications of the disease process.	acute necrotizing pancreatitis;acute pancreatic necrosis;acute pancreatitis;acute pancreatitis (disorder) [ambiguous];pancreatitis necrotizing;pancreatitis, acute
Acute promyelocytic leukemia	EFO_0000224	Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.;An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and micro granular (hypo granular) variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001) -- 2003;An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate.  It is characterized by the t(15;17)(q22;q12) translocation.  There are two variants: the typical and microgranular variant.  This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis.  (WHO, 2001)	AML M3;AML with t(15;17)(q22;q12);AML with t(15;17)(q22;q12);(PML/RARalpha) and variants;APL;APML;APML - Acute promyelocytic leukemia;APML - acute promyelocytic leukemia;Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA;FAB M3;Promyelocytic Leukemia;acute myeloblastic leukemia 3;acute myeloblastic leukemia type 3;acute myeloid leukemia M3;acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants;acute promyelocytic leukemia;acute promyelocytic leukemia with PML-rara;acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara;acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara;promyelocytic leukemia
Acute respiratory distress syndrome	EFO_1000637	Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.	ARDS;Adult RDS;Adult Respiratory Distress Syndrome;Adult Respiratory Distress Syndrome, ARDS;Shock lung;adult ARDS;adult RDS;adult acute respiratory distress syndrome;adult respiratory distress syndrome;adult respiratory distress syndrome, ARDS;shock lung
Acute respiratory failure	MONDO_0001208	Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.	acute respiratory failure;respiratory failure, acute
Adenocarcinoma	EFO_0000228	A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.;A malignant epithelial tumor with a glandular organization.;A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.	Adenocarcinoma, Basal Cell;Adenocarcinoma, Granular Cell;Adenocarcinoma, Oxyphilic;Adenocarcinoma, Tubular;Adenocarcinomas;Adenocarcinomas, Basal Cell;Adenocarcinomas, Granular Cell;Adenocarcinomas, Oxyphilic;Adenocarcinomas, Tubular;Adenoma, Malignant;Adenomas, Malignant;Basal Cell Adenocarcinoma;Basal Cell Adenocarcinomas;Carcinoma, Cribriform;Carcinoma, Granular Cell;Carcinoma, Tubular;Carcinomas, Cribriform;Carcinomas, Granular Cell;Carcinomas, Tubular;Cribriform Carcinoma;Cribriform Carcinomas;Granular Cell Adenocarcinoma;Granular Cell Adenocarcinomas;Granular Cell Carcinoma;Granular Cell Carcinomas;Malignant Adenoma;Malignant Adenomas;Oxyphilic Adenocarcinoma;Oxyphilic Adenocarcinomas;Tubular Adenocarcinoma;Tubular Adenocarcinomas;Tubular Carcinoma;Tubular Carcinomas;adenocarcinoma;adenocarcinoma NOS (morphologic abnormality);adenocarcinoma, malignant;adenocarcinoma, no subtype (morphologic abnormality);adenocarcinomas
Adenocarcinoma in situ	MONDO_0003218	A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.	adenocarcinoma in situ
Adenocarcinoma of cervix uteri	MONDO_0016275	A adenocarcinoma that involves the uterine cervix.	cervical adenocarcinoma;uterine cervix adenocarcinoma
Adenocarcinoma of gallbladder and extrahepatic biliary tract	MONDO_0018536	Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	adenocarcinoma of gallbladder and EBT;adenocarcinoma of the gallbladder and EBT;adenocarcinoma of the gallbladder and extrahepatic biliary tract
Adenocarcinoma of liver and intrahepatic biliary tract	MONDO_0018532	N/A	adenocarcinoma of liver and IBT;adenocarcinoma of the liver and IBT;adenocarcinoma of the liver and intrahepatic biliary tract
Adenoid cystic carcinoma	EFO_0000231	A malignant tumor arising from the epithelial cells.  Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma).  Adenoid cystic carcinomas mostly occur in the salivary glands.  Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs.  Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur.  Lymph node metastases are unusual; hematogenous tumor spread is characteristic.;A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.;Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)	Adenocarcinoma, cylindroid;Adenocystic Carcinoma;Adenocystic Carcinomas;Adenoid Cystic Carcinomas;Adenoid cystic carcinoma (morphologic abnormality);Bronchial adenoma, cylindroid;Carcinoma, Adenocystic;Carcinoma, Adenoid Cystic;Carcinomas, Adenocystic;Carcinomas, Adenoid Cystic;Cylindroid Adenocarcinoma;Cylindroma;Cylindroma (except Cylindroma of skin, M-82000);Cylindroma (morphologic abnormality);Cylindroma NOS;Cylindroma, NOS (except Cylindroma of skin, M-82000);Cylindromas;Cystic Carcinoma, Adenoid;Cystic Carcinomas, Adenoid;adenocystic carcinoma;adenoid cystic cancer;adenoid cystic carcinoma;cylindroid adenocarcinoma
Adenoma	EFO_0000232	A neoplasm arising from the epithelium.  It may be encapsulated or non-encapsulated but non-invasive.  The neoplastic epithelial cells may or may not display cellular atypia or dysplasia.  In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ.  Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.;A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.;The congenital absence of the thyroid gland.	acinar cell adenoma;acinar cell adenoma (morphologic abnormality);acinic cell adenoma;adenoma;adenomas
Adenosquamous carcinoma	EFO_1000073	A carcinoma composed of malignant glandular cells and malignant squamous cells.	adenosquamous carcinoma;adenosquamous carcinoma (morphologic abnormality);adenosquamous cell carcinoma;carcinoma, adenosquamous, malignant;mixed adenocarcinoma and epidermoid carcinoma;mixed adenocarcinoma and epidermoid cell carcinoma;mixed adenocarcinoma and squamous carcinoma;mixed adenocarcinoma and squamous cell carcinoma
Adenoviridae infectious disease	MONDO_0043479	An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.	Adenoviridae caused disease or disorder;Adenoviridae disease or disorder;Adenoviridae infectious disease;adenoviridae infectious disease;adenovirus infection;disease due to adenovirus
Adiponectin measurement	EFO_0004502	Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Low circulating adiponectin concentrations (hypoadiponectinemia; <4 μg/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), sleep apnea, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer). Hyperadiponectinemia is associated with cardiac, renal and pulmonary diseases.	adiponectin levels
A disintegrin and metalloproteinase with thrombospondin motifs 5 measurement	EFO_0008326	quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample	ADAMTS5 measurement
Adolescence-adult electroclinical syndrome	MONDO_0000415	An electroclinical syndrome with onset in adolescence and adulthood.	N/A
Adolescent/adult-onset epilepsy syndrome	MONDO_0100030	An epilepsy syndrome that has an onset during the adolescent or adult stage of life.	N/A
Adolescent idiopathic scoliosis	EFO_0005423	A scoliosis with no known cause arising in adolescent.	adolescent idiopathic scoliosis
Adolescent-onset epilepsy syndrome	Orphanet_98260	N/A	N/A
Adrenal carcinoma	MONDO_0002814	A carcinoma involving a adrenal gland.	adrenal gland carcinoma;carcinoma of adrenal gland;carcinoma of the adrenal gland
Adrenal cortex carcinoma	EFO_1000796	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.;An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland.;Tumors or cancers of the ADRENAL CORTEX.	Adrenal Cortex Carcinoma;Adrenal Cortex Neoplasms;Adrenal cortical carcinoma (morphologic abnormality);Adrenal cortical tumors NOS (disorder);adenocarcinoma, adrenocortical, malignant;adrenal cortex adenocarcinoma;adrenal cortex cancer;adrenal cortex carcinoma;adrenal cortext cancer;adrenal cortical adenocarcinoma;adrenal cortical carcinoma;adrenal cortical carcinoma (morphologic abnormality);adrenal cortical tumors;adrenocortical cancer;adrenocortical carcinoma;adrenocortical carcinoma (disease);cancer of the adrenal cortex;carcinoma of adrenal cortex;carcinoma of the Adrenal cortex;carcinoma of the adrenal cortex;carcinoma, adrenocortical, malignant;cortical cell carcinoma;malignant Adrenocortical tumor;malignant adrenocortical tumor;malignant neoplasm of adrenal cortex;malignant tumour of adrenal cortex;neoplasm of adrenal cortex;neoplasm of adrenal cortex (disorder)
Adrenal cortex disease	MONDO_0002816	A disease involving the adrenal cortex.	adrenal cortex disease;adrenal cortex disease or disorder;disease of adrenal cortex;disease or disorder of adrenal cortex;disorder of adrenal cortex
Adrenal cortex neoplasm	MONDO_0036591	A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)	adrenal cortex neoplasm;adrenal cortex tumor;adrenocortical neoplasm;adrenocortical tumor;neoplasm of adrenal cortex;tumor of adrenal cortex
Adrenal gland cancer	MONDO_0002817	A malignant neoplasm involving the adrenal gland	adrenal cancer;adrenal gland cancer;adrenal neoplasm;cancer of adrenal gland;malignant adrenal gland neoplasm;malignant adrenal gland tumor;malignant adrenal neoplasm;malignant adrenal tumor;malignant neoplasm of adrenal gland;malignant neoplasm of the adrenal gland;malignant tumor of adrenal gland;malignant tumor of the adrenal gland;neoplasm of adrenal gland;tumor of the adrenal gland
Adrenal gland disease	EFO_0005539	A disease involving the adrenal gland.;An endocrine system disease that is located_in the adrenal gland.	adrenal gland disease;adrenal gland disease or disorder;adrenal gland diseases;adrenal gland disorder;adrenal gland disorders;disease of adrenal gland;disease or disorder of adrenal gland;disorder of adrenal gland
Adrenal gland neoplasm	EFO_0003850	A neoplasm (disease) that involves the adrenal gland.;Tumors or cancer of the ADRENAL GLANDS.	ADRENAL GLAND NEOPL;Adrenal Cancer;Adrenal Cancers;Adrenal Gland Cancer;Adrenal Gland Cancers;Adrenal Gland Neoplasms;Adrenal Neoplasm;Adrenal Neoplasms;Cancer of the Adrenal Gland;Cancer, Adrenal;Cancer, Adrenal Gland;Cancers, Adrenal;Cancers, Adrenal Gland;NEOPL ADRENAL GLAND;Neoplasm, Adrenal;Neoplasm, Adrenal Gland;Neoplasms, Adrenal;Neoplasms, Adrenal Gland;adrenal gland neoplasm;adrenal gland neoplasm (disease);adrenal gland tumor;adrenal neoplasm;adrenal neoplasms;adrenal tumor;neoplasm of adrenal gland;neoplasm of the adrenal gland;tumor of adrenal gland;tumor of the adrenal gland
Adrenal gland pheochromocytoma	EFO_0000239	A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines.  It arises from the chromaffin cells of the adrenal medulla.  Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor.  Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen.  Other growth patterns including trabecular pattern may also be present.;A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.	Adrenal Gland Chromaffin Paraganglioma;Adrenal Gland Chromaffinoma;Adrenal Gland Paraganglioma;Adrenal Medullary Paraganglioma;Adrenal Medullary Pheochromocytoma;Adrenal Pheochromocytoma;Chromaffin Paraganglioma of the Adrenal Gland;Intraadrenal Paraganglioma;Intraadrenal paraganglioma;PCC;Phaeochromocytoma;Pheochromocytoma;adrenal gland Chromaffinoma;adrenal gland chromaffin paraganglioma;adrenal gland paraganglioma;adrenal gland pheochromocytoma;adrenal medullary paraganglioma;adrenal medullary pheochromocytoma;adrenal pheochromocytoma;chromaffin paraganglioma of the adrenal gland;pheochromocytoma;pheochromocytoma (adrenal)
Adrenal medulla neoplasm	MONDO_0021237	A neoplasm (disease) that involves the adrenal medulla.	adrenal medulla neoplasm (disease);adrenal medulla tumor;neoplasm of adrenal medulla;tumor of adrenal medulla
Adrenal/paraganglial tumor	MONDO_0015077	N/A	N/A
Adult acute lymphoblastic leukemia	MONDO_0003541	An acute lymphoblastic leukemia occurring during adulthood.	adult ALL;adult acute lymphoblastic leukemia;adult acute lymphocytic leukemia;adult acute lymphogenous leukemia;adult acute lymphoid leukemia;adult precursor lymphoblastic leukemia
Adult t acute lymphoblastic leukemia	EFO_1001936	An acute T-lymphoblastic leukemia occurring in adults.	Adult Precursor T-Lymphoblastic Leukemia;Adult T-Cell Acute Lymphoblastic Leukemia;T Acute Lymphoblastic Leukemia;T Cell Adult ALL;T cell adult ALL;T cell adult acute lymphoblastic leukemia;T cell adult acute lymphocytic leukemia;T-Cell Adult ALL;T-Cell Adult Acute Lymphocytic Leukemia;T-cell adult ALL;T-cell adult acute lymphocytic leukemia;acute Adult T-cell Leukemia-lymphoma;adult T acute lymphoblastic leukemia;adult T-cell acute lymphoblastic leukemia;adult acute lymphoblastic leukemia of T cell;adult precursor T lymphoblastic leukemia;adult precursor T-lymphoblastic leukemia
Afferent loop syndrome	EFO_100079	N/A	N/A
Age at menarche	EFO_0004703	The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual	N/A
Age at menopause	EFO_0004704	The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual	N/A
Age-related cataract	HP_0011141	A type of cataract (opacification of the lens) that forms during the course of aging.	N/A
Age-related hearing impairment	EFO_0005782	Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.	ARHI;age-related hearing impairment;age-related hearing loss
Age-related macular degeneration	EFO_0001365	Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.;Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.;Degenerative changes in the macula lutea of the retina.	AAMD - Age related macular degeneration;AGE RELAT MACULOPATHIES;AGE RELAT MACULOPATHY;AMD;AMD - Age-related macular degeneration;ARMD;ARMD - Age-related macular degeneration;Age Related Macular Degeneration;Age Related Maculopathies;Age related macular degeneration (disorder) [Ambiguous];Age related maculopathy;Age-Related Macular Degenerations;Age-Related Maculopathies;Age-Related Maculopathy;Age-related macular degeneration (disorder);Amended;Degeneration, Age-Related Macular;Degeneration, Macular;Degenerations, Age-Related Macular;Degenerations, Macular;Dystrophies, Macular;Dystrophy, Macular;MACULAR DEGENERATION NOS;MACULOPATHIES AGE RELAT;MACULOPATHY AGE RELAT;Macular Degeneration;Macular Degeneration, Age-Related;Macular Degenerations;Macular Degenerations, Age-Related;Macular Dystrophies;Macular Dystrophy;Macular degeneration (disorder);Macular degeneration (senile) of retina, unspecified;Maculopathies, Age Related;Maculopathies, Age-Related;Maculopathy, Age Related;Maculopathy, Age-Related;SMD - Senile macular degeneration;Senile macular degeneration;Senile macular degeneration of retina;Senile macular retinal degeneration;Unspecified senile macular degeneration;age related Maculopathies;age related maculopathy;age-related macular degeneration;macular degeneration, age-related
Age-related nuclear cataract	HP_0011142	A type of age-related cataract that primarily affects the nucleus of the lens.	N/A
Aggressive b-cell non-hodgkin lymphoma	MONDO_0017595	N/A	aggressive B-cell NHL
Aggressive primary cutaneous t-cell lymphoma	MONDO_0015817	N/A	N/A
Aging	GO_0007568	The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.	AGING BIOL;Aging, Biological;BIOL AGING;Biological Aging;Senescence;ageing
Aids dementia	EFO_0002608	A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.;A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.;A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)	AIDS dementia;AIDS dementia complex;AIDS with dementia (disorder);Acquired immune deficiency syndrome dementia complex;HIV associated cognitive and motor complex;HIV encephalitis;HIV-associated dementia
Aids	EFO_0000765	A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.;A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV).  It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes.  Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea.  Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma).  The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004;A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.;A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin&amp;apos;s lymphoma and Kaposi&amp;apos;s sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.;A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.;Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.;An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.;An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.	ACQUIRED IMMUNE DEFIC SYNDROME;ACQUIRED IMMUNO DEFIC SYNDROME;ACQUIRED IMMUNODEFIC SYNDROME;ACQUIRED IMMUNODEFICIENCY SYNDROME, AIDS;AIDS;AIDS (disorder);AIDS - Acquired immunodeficiency syndrome;AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME;AIDS, NOS;AIDS, acquired immunodeficiency syndrome;Acquired Immuno Deficiency Syndrome;Acquired Immuno-Deficiency Syndrome;Acquired Immuno-Deficiency Syndromes;Acquired Immunodeficiency Syndromes;Acquired human immunodeficiency virus infection syndrome NOS;Acquired immune defic. syndr.;Acquired immune deficiency syndrome (AIDS);Acquired immune deficiency syndrome (AIDS) (disorder);Acquired immune deficiency syndrome, NOS;Acquired immunodeficiency syndrome;Acquired immunodeficiency syndrome, NOS;IMMUNODEFIC SYNDROME ACQUIRED;IMMUNOL DEFIC SYNDROME ACQUIRED;Immuno-Deficiency Syndrome, Acquired;Immuno-Deficiency Syndromes, Acquired;Immunodeficiency Syndrome, Acquired;Immunodeficiency Syndromes, Acquired;Immunodeficiency due to human immunodeficiency virus infection;Immunologic Deficiency Syndrome, Acquired;Syndrome, Acquired Immuno-Deficiency;Syndrome, Acquired Immunodeficiency;Syndromes, Acquired Immuno-Deficiency;Syndromes, Acquired Immunodeficiency;acquired Immune deficiency;acquired human immunodeficiency virus infection syndrome NOS (disorder);acquired immune deficiency;acquired immune deficiency syndrome;acquired immunedeficiency syndrome;acquired immunodeficiency disease;acquired immunodeficiency syndrome, AIDS
Airway hyperresponsiveness	EFO_0005414	one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility	N/A
Airway wall thickness measurement	EFO_0006898	Quantification of the thickness of the walls of different parts of the respiratory tract, calculated from cross-sectional CT images. This measure can be used as an indicator of airway obstruction severity in COPD.	N/A
Al amyloidosis	Orphanet_85443	AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ.	Light-chain amyloidosis;Primary amyloidosis
Albumin:globulin ratio measurement	EFO_0005128	quantification of the ratio of the protein albumin to globulin in the blood serum	ALBGLOB;Albumin to Globulin Ratio Measurement;Albumin/Globulin;albumin-globulin ratio measurement
Albuminuria	EFO_0004285	The presence of albumin in the urine, an indicator of KIDNEY DISEASES.	urinary albumin excretion
Alcohol dependence	EFO_0003829	A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4);Disorders related to or resulting from abuse or mis-use of alcohol.;Physical and psychological dependence on alcohol.	ALCOHOLIC INTOX CHRONIC;Abuse, Alcohol;Alcohol Abuse;Alcoholic Intoxication, Chronic;Chronic Alcoholic Intoxication;Intoxication, Chronic Alcoholic;alcohol dependence;alcoholism
Alcohol dependence measurement	EFO_0007835	quantification of some aspect of alcohol dependence or misuse, eg using a cummulative symptom score to determine the severity of a case of alcohol dependence	alcohol misuse measurement
Alcohol drinking	EFO_0004329	Behaviors associated with the ingesting of alcoholic beverages, including social drinking.	alcohol consumption
Alcoholic cardiomyopathy	EFO_1000801	A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.;Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE).	Alcohol-induced heart muscle disease;Alcoholic cardiomyopathy;Cardiomyopathy, Alcoholic;Dilated cardiomyopathy secondary to alcohol (disorder);alcohol-induced heart muscle disease;alcoholic cardiomyopathy;dilated cardiomyopathy secondary to alcohol
Alcoholic fatty liver disease	MONDO_0021104	N/A	N/A
Alcoholic liver cirrhosis	EFO_1000802	A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.;FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING.	Alcoholic Cirrhosis;Alcoholic cirrhosis of liver;Alcoholic cirrhosis of liver (disorder);Alcoholic cirrhosis of liver (disorder) [Ambiguous];Laennec's cirrhosis;Laennec's cirrhosis, alcoholic;Liver Cirrhosis, Alcoholic;Portal Cirrhosis;Portal cirrhosis;Portal cirrhosis (disorder);Portal cirrhosis unspecified (disorder);alcoholic cirrhosis;alcoholic cirrhosis of liver;alcoholic liver cirrhosis;portal cirrhosis
Alcoholic liver disease	EFO_0008573	A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.;A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. [ NCI ]	Alcoholic Liver Diseases;alcoholic liver disease;alcoholic liver diseases
Alcoholic pancreatitis	EFO_1002013	Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.	alcoholic pancreatitis
Alcohol-induced disorders	MONDO_0021699	Disorders stemming from the misuse and abuse of alcohol.	N/A
Alcohol-induced mental disorder	MONDO_0002326	N/A	N/A
Alcohol-related disorders	MONDO_0021698	Disorders related to or resulting from abuse or mis-use of alcohol.	N/A
Alkaline phosphatase measurement	EFO_0004533	Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease.	AP
Allergic contact dermatitis	EFO_1000668	A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.;An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.	allergic contact dermatitis;allergic form of contact dermatitis
Allergic respiratory disease	MONDO_0000771	A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.	airway allergy;allergic form of respiratory system disease;allergic respiratory system disease;respiratory allergy
Allergic rhinitis	EFO_0005854	Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.	allergic form of rhinitis;allergic rhinitis;atopic rhinitis;hay fever;pollenosis
Allergic sensitization measurement	EFO_0005298	quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)	N/A
Allergy	EFO_0003785	Allergy is any exaggerated immune response to a foreign antigen regardless of mechanism. Thus it includes atopy.Source: Merck Manual;Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen.;An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.;An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.	Allergic Reaction;Allergic Reactions;Allergies;Hypersensitivities;Reaction, Allergic;Reactions, Allergic;allergic disease;allergic disease or disorder;allergic form of disease or disorder;allergic form of immune system disease;allergic reaction;allergic response;allergy;disorder of type I hypersensitivity;hypersensitivity;hypersensitivity reaction type I disease;type I hypersensitivity disease
Alopecia areata	EFO_0004192	A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed).;Loss of scalp and body hair involving microscopically inflammatory patchy areas.	alopecia areata;circumscribed alopecia
Alopecia	Orphanet_79364	N/A	N/A
Alphavirus infectious disease	EFO_0007142	A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite.;Virus diseases caused by members of the alphavirus genus of the family togaviridae.	Alphavirus Infections;Alphavirus caused disease or disorder;Alphavirus disease or disorder;Alphavirus infectious disease
Alport syndrome	Orphanet_63	Alport syndrome (AS) is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane.	Alport deafness-nephropathy
Altitude sickness	EFO_1000782	A pathological effect of high altitude on humans, occurring when exposure to low partial pressure of oxygen, typically at high altitudes, causes hypoxia (a decrease in the amount of oxygen in the body). It commonly occurs above 2,400 metres (8,000 feet). It presents as a collection of nonspecific symptoms, resembling a case of "flu, carbon monoxide poisoning, or a hangover". It is hard to determine who will be affected by altitude sickness, as there are no specific factors that correlate with a susceptibility to altitude sickness. However, most people can ascend to 2,400 metres (8,000 ft) without difficulty.;Multiple symptoms associated with reduced oxygen at high altitude.	AMS;acute mountain sickness;altitude hypoxia;altitude illness;altitude sickness;hypobaropathy;mountain sickness;soroche;the altitude bends
Alveolar rhabdomyosarcoma	EFO_0000248	A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.;Alveolar	ARMS;Alveolar Rhabdomyosarcomas;Alveolar rhabdomyosarcoma (disorder);Alveolar rhabdomyosarcoma (morphologic abnormality);Rhabdomyosarcoma, Alveolar;Rhabdomyosarcomas, Alveolar;alveolar childhood rhabdomyosarcoma;alveolar rhabdomyosarcoma;alveolar rhabdomyosarcoma (disease);alveolar rhabdomyosarcoma (morphologic abnormality);arms;aveolar rhabdomyosarcoma;monomorphous round cell rhabdomyosarcoma;pediatric alveolar rhabdomyosarcoma;rhabdomyosarcoma type 2
Alzheimer's disease	EFO_0000249	A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57);A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.;A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.;A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.	AD;AD - Alzheimer's disease;ALZHEIMER DIS;ALZHEIMERS DIS;Alzheimer Dementia;Alzheimer Dementia, Presenile;Alzheimer Disease;Alzheimer Type Dementia;Alzheimer dementia;Alzheimer disease;Alzheimer's;Alzheimer's Dementia;Alzheimer's dementia;Alzheimer's disease;Alzheimer's disease (disorder);Alzheimer's disease, NOS;Alzheimers;Alzheimers Dementia;Alzheimers dementia;Alzheimers disease;DAT - Dementia Alzheimer's type;Dementia in Alzheimer's disease;Dementia in Alzheimer's disease (disorder);Dementia in Alzheimer's disease, unspecified (disorder);Dementia of the Alzheimer's type;Dementia, Alzheimer Type;Dementia, Presenile;Dementia, Presenile Alzheimer;Disease, Alzheimer;Disease, Alzheimer's;Presenile Alzheimer Dementia;[X]Dementia in Alzheimer's disease;[X]Dementia in Alzheimer's disease (disorder);sporadic Alzheimer's disease
Amino acid measurement	EFO_0005134	quantification of some amino acid in a biological assay	N/A
Amino acid metabolism disease	MONDO_0037871	A disease that has its basis in the disruption of cellular amino acid metabolic process.	amino acid metabolism disorder;cellular amino acid metabolic process disease;disorder of amino acid metabolism;disorder of cellular amino acid metabolic process
Amino acid or protein metabolism disease with epilepsy	MONDO_0016399	N/A	N/A
Aminoacylase deficiency	Orphanet_308448	N/A	N/A
Amniotic bands	Orphanet_1034	Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.	ADAM syndrome;Adam syndrome;Amniotic deformity - adhesion - mutilation syndrome;amniotic band constriction;amniotic band syndrome;amniotic bands;amniotic deformity-adhesion-mutilation syndrome;deformity due to amniotic band
Ampulla of vater adenocarcinoma	EFO_0008490	A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla;Ampulla of Vater adenocarcinoma is a relatively rare cancerarising from the periampullary region. The periampullary region is made up of those organs located in the vicinity (within 2 cm) of the ampulla of Vater, which includes the pancreas, distal common bile duct, duodenum, and the ampulla of Vater itself. Ampullary adenocarcinoma is classified in two subtypes: intestinal-type (better prognosis) and pancreatobiliary (worse prognosis).	adenocarcinoma of ampulla of Vater;ampulla of Vater adenocarcinoma;ampulla of vater adenocarcinoma;ampullary adenocarcinoma;hepatopancreatic ampulla adenocarcinoma;invasive adenocarcinoma of the ampullary region
Ampulla of vater cancer	MONDO_0000919	A primary or metastatic malignant neoplasm involving the ampulla of Vater.	cancer of hepatopancreatic ampulla;hepatopancreatic ampulla cancer;malignant ampulla of Vater neoplasm;malignant ampulla of Vater tumor;malignant hepatopancreatic ampulla neoplasm;malignant neoplasm of ampulla of Vater;malignant neoplasm of hepatopancreatic ampulla;malignant neoplasm of the ampulla of Vater;malignant tumor of ampulla of Vater;malignant tumor of the ampulla of Vater;malignant tumour of ampulla of vater
Ampulla of vater carcinoma	EFO_1000079	A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	Ampulloma;ampulla of Vater cancer;ampulla of Vater carcinoma;ampullary cancer;ampullary carcinoma;carcinoma of ampulla of vater;carcinoma of hepatopancreatic ampulla;carcinoma of the ampulla of vater;hepatopancreatic ampulla carcinoma
Ampulla of vater neoplasm	MONDO_0000921	A benign or malignant neoplasm involving the ampulla of Vater.	ampulla of Vater tumor;hepatopancreatic ampulla neoplasm;hepatopancreatic ampulla neoplasm (disease);hepatopancreatic ampulla tumor;neoplasm of ampulla of Vater;neoplasm of hepatopancreatic ampulla;neoplasm of the ampulla of Vater;tumor of ampulla of Vater;tumor of hepatopancreatic ampulla;tumor of the ampulla of Vater
Amyloidosis	EFO_1001875	A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.	amyloid;amyloid disease;amyloidoses;amyloidosis;amyloidosis (disease);systemic amyloidosis
Amyotrophic lateral sclerosis	EFO_0000253	A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).;A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94);Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.;An autosomal dominant inherited form of amyloidosis.	ALS;ALS (Amyotrophic Lateral Sclerosis);ALS - Amyotrophic lateral sclerosis;AMYOTROPHIC SCLEROSIS;Amyotrophic Lateral Sclerosis With Dementia;Amyotrophic Lateral Sclerosis, Guam Form;Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1;Amyotrophic lateral sclerosis (disorder);Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam;Bulbar motor neuron disease;Charcot disease;Dementia With Amyotrophic Lateral Sclerosis;Disease, Lou-Gehrigs;GEHRIGS DIS;Gehrig Disease;Gehrig's Disease;Gehrigs Disease;Guam Form of Amyotrophic Lateral Sclerosis;LOU GEHRIG DIS;LOU GEHRIGS DIS;Lateral Scleroses, Amyotrophic;Lou Gehrig Disease;Lou Gehrig disease;Lou Gehrig's Disease;Lou Gehrig's disease;Lou Gehrigs Disease;Lou-Gehrigs Disease;MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS;Motor Neuron Disease, Amyotrophic Lateral Sclerosis;Motor neuron disease, bulbar;Sclerosis, Amyotrophic Lateral;amyotrophic lateral sclerosis;motor neuron disease, bulbar
Anal neoplasm	EFO_0003835	A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.;Tumors of the ANAL CANAL.	ANAL NEOPL;ANUS NEOPL;Anal Neoplasms;Anus Neoplasm;Anus Neoplasms;NEOPL ANAL;NEOPL ANUS;Neoplasm, Anal;Neoplasm, Anus;Neoplasms, Anal;Neoplasms, Anus;anal neoplasm;anal neoplasms, benign and malignant;anal tumor;anal tumors;anus neoplasm;anus neoplasm (disease);anus tumor;neoplasm of anus;neoplasm of the anus;tumor of anus;tumor of the anus
Anaplastic astrocytoma	EFO_0002499	A diffusely infiltrating, WHO grade III astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO);Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.	Anaplastic Astrocytoma;Anaplastic Astrocytomas;Astrocytoma, Anaplastic;Astrocytomas, Anaplastic;anaplastic astrocytoma;astrocytoma, anaplastic (morphologic abnormality);astrocytoma, anaplastic, malignant;grade III Astrocytic tumor;grade III astrocytic neoplasm;grade III astrocytic tumor;grade III astrocytoma;malignant astrocytoma
Anaplastic cancer	MONDO_0020633	N/A	anaplastic malignant neoplasm
Anaplastic large cell lymphoma	EFO_0003032	A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001);Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL (see these terms).	ALCL;CD30 Positive anaplastic large cell lymphoma;CD30 positive anaplastic large cell lymphoma;Ki-1 lymphoma;Ki-1 positive anaplastic large cell lymphoma;Ki-1+ ALCL;Ki-1+ anaplastic large cell lymphoma;anaplastic large cell lymphoma;primary systemic ALCL;sACL
Androgenetic alopecia	EFO_0004191	N/A	alopecia androgenetica, male pattern baldness;alopecia, androgenetic;alopecia, androgenic;alopecia, male pattern;androgenetic alopecia;androgenic alopecia;male pattern baldness;male-pattern baldness
Anemia (disease)	MONDO_0002280	A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.	anaemia;anemia
Anemia	EFO_0004272	A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.	N/A
Anencephaly	MONDO_0000819	A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.	anencephalus
Aneurysm	EFO_0009659	Bulging or ballooning in an area of an artery secondary to arterial wall weakening. [ NCI ]	N/A
Angelman syndrome	Orphanet_72	Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	N/A
Angiogenin measurement	EFO_0008022	quantification of the amount of angiogenin in a sample	N/A
Angiosarcoma	EFO_0003968	A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.	Hemangiosarcoma;angiosarcoma;angiosarcoma (disease);blood vessel sarcoma;hemangiosarcoma;hemangiosarcoma, malignant;malignant angioendothelioma;malignant hemangioendothelioma;sarcoma of blood vessel;vascular sarcoma
Angle-closure glaucoma	MONDO_0001744	The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.	ACG - angle-closure glaucoma;Narrow cleft glaucoma;angle closure glaucoma;closed angle glaucoma;primary open-angle glaucoma with narrow angles
Anhedonia	HP_0012154	Inability to experience pleasure activities usually found enjoyable.	N/A
Animal disease	EFO_0005932	A disease that occurs in animals.	animal disease;diseases, animal;non-human animal disease
Aniridia	Orphanet_77	Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms).	N/A
Ankle injury	EFO_1002021	trauma to the ankle joint	N/A
Ankylosing spondylitis	EFO_0003898	A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.;An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.	Ankylosing Spondylarthritides;Ankylosing Spondylarthritis;Ankylosing Spondyloarthritides;Ankylosing Spondyloarthritis;BECHTEREW DIS;BECHTEREWS DIS;Bechterew Disease;Bechterew's Disease;Bechterews Disease;Bekhterev syndrome;Bekhterev's disease;MARIE STRUEMPELL DIS;Marie Struempell Disease;Marie-Struempell Disease;Marie-Strumpell disease;Rheumatoid Spondylitis;Spondylarthritides, Ankylosing;Spondylarthritis Ankylopoietica;Spondylarthritis, Ankylosing;Spondylitis, Ankylosing;Spondylitis, Rheumatoid;Spondyloarthritides, Ankylosing;Spondyloarthritis, Ankylosing;ankylosing spondylitis
Anomaly of puberty or/and menstrual cycle	MONDO_0015860	N/A	N/A
Anomaly of puberty or/and menstrual cycle of genetic origin	Orphanet_202940	N/A	N/A
Anorectal malformation	Orphanet_96346	N/A	N/A
Anterior cerebral artery infarction	EFO_1000807	NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.;necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.	Infarction, Anterior Cerebral Artery;anterior cerebral artery infarction
Anterior horn disease	MONDO_0003182	Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.	disease of ventral horn of spinal cord;disease or disorder of ventral horn of spinal cord;disorder of ventral horn of spinal cord;ventral horn of spinal cord disease;ventral horn of spinal cord disease or disorder
Anterior pituitary gland disease	MONDO_0024468	A disease that involves the adenohypophysis.	adenohypophysis disease;adenohypophysis disease or disorder;disease of adenohypophysis;disease or disorder of adenohypophysis;disorder of adenohypophysis;disorder of anterior pituitary
Anti-neutrophil antibody associated vasculitis	EFO_0004826	Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	anti-neutrophil antibody associated vasculitis
Anti-neutrophil cytoplasmic antibody-associated vasculitis	MONDO_0015492	Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	AAV;ANCA-associated vasculitis;antineutrophil cytoplasmic antibody-associated vasculitis
Antioxidant measurement	EFO_0005119	quantification of some antioxidant in a biological sample	N/A
Antiphospholipid antibody measurement	EFO_0005200	Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- β 2 glycoprotein I antibodies (anti- β 2GPI).They can be an indicator of antiphospholipid syndrome	N/A
Antiphospholipid syndrome	EFO_0002689	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.;An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids.	Antiphospholipid syndrome (disorder);antiphospholipid antibody syndrome;antiphospholipid syndrome
Antisaccade response measurement	EFO_0006874	Quantification of the error rate reflecting the proportion of trials in an antisaccade task that resulted in a prosaccade response. An antisaccade task invovles the suppression of the involuntary saccade towards a stimulus (prosaccade response) following a period of fixation on a motionless target.	N/A
Anus disease	EFO_0009660	A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.;A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. [database_cross_reference: NCIT:C26695]	Ulcer of anus;anal disease;anal disorder;anal fissure;anal fissure and fistula;anal ulcer;anus disease;anus disease or disorder;disease of anus;disease or disorder of anus;disorder of anal region;disorder of anus;fissure in ano;nontraumatic tear of anus;solitary anal ulcer
Anxiety disorder	EFO_0006788	A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.	anxiety;anxiety disorder;anxiety disorders;anxiety neuroses;anxiety neurosis;anxiety state;anxiety/mood disorders;chronic stress;mood and anxiety disorder;mood and anxiety disorders;neurotic anxiety states
Anxiety	EFO_0005230	Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.	N/A
Aortic aneurysm	EFO_0001666	A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.;An abnormal balloon- or sac-like dilatation in the wall of AORTA.;a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall;protruding sac formed by dilation of the aorta	Aneurysm, Aortic;Aneurysms, Aortic;Aortic Aneurysms;abdominal aortic aneurysm, ruptured;aortic aneurysm;aortic aneurysm (disease);aortic aneurysm of unspecified site, ruptured;ruptured abdominal aortic aneurysm;ruptured aortic aneurysm;ruptured thoracic aneurysm;ruptured thoracic aortic aneurysm;ruptured thoracoabdominal aortic aneurysm;thoracic aortic aneurysm which HAS ruptured;thoracic aortic aneurysm, ruptured;thoracoabdominal aortic aneurysm, ruptured
Aortic disease	EFO_0005775	An artery disease that is characterized by degeneration of the cells composing the aortic wall.;Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)	aorta disease;aorta disease or disorder;aortic disease;aortic disorder;disease of aorta;disease or disorder of aorta;disorder of aorta;disorder of the aorta
Aortic stenosis	EFO_0000266	A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.;Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS.;Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS.;In the same amount or manner; to the same degree; in the role, function, or capacity of.	AS;AS - Aortic stenosis;Aortic Valve Stenoses;Aortic Valve Stenosis;Aortic valve stenosis (disorder);Aortic valve stenosis, NOS;Stenosed aortic valve;Stenoses, Aortic;Stenoses, Aortic Valve;Stenosis, Aortic;Stenosis, Aortic Valve;Valve Stenoses, Aortic;Valve Stenosis, Aortic;aortic stenosis;congenital aortic valve stenosis;rheumatic aortic stenosis;rheumatic aortic valve stenosis
Aortic valve disease	EFO_0009531	A disease involving the aortic valve.	aortic valve disease;aortic valve disease or disorder;aortic valve disorder;disease of aortic valve;disease or disorder of aortic valve;disorder of aortic valve
Aortic valve insufficiency	EFO_0007148	An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.;Dysfunction of the aortic valve characterized by incomplete valve closure.	Aortic Valve Insufficiency;Rheumatic aortic insufficiency;Rheumatic aortic regurgitation;Rheumatic aortic valve regurgitation;aortic incompetence;aortic insufficiency;aortic regurgitation;aortic valve insufficiency;rheumatic aortic insufficiency;rheumatic aortic regurgitation;rheumatic aortic valve insufficiency;rheumatic aortic valve regurgitation
Aplastic anemia	HP_0001915	Aplastic anemia is defined as pancytopenia with a hypocellular marrow.	N/A
Aplastic anemia	Orphanet_182040	N/A	N/A
Apocrine sweat gland disease	EFO_1002046	A disease that involves the apocrine sweat gland.	apocrine sweat gland disease;apocrine sweat gland disease or disorder;apocrine sweat gland disorder;disease of apocrine sweat gland;disease or disorder of apocrine sweat gland;disorder of apocrine sweat gland
Apolipoprotein e measurement	EFO_0008029	quantification of the amount of apolipoprotein E in a sample	N/A
Apoptotic process	GO_0006915	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathways) which typically lead to rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. The process ends when the cell has died. The process is divided into a signaling pathway phase, and an execution phase, which is triggered by the former.	apoptotic cell death;apoptotic programmed cell death;programmed cell death by apoptosis
Apparent mineralocorticoid excess syndrome	EFO_1000817	A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.;An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.	Mineralocorticoid Excess Syndrome, Apparent;apparent mineralocorticoid excess syndrome;syndrome of apparent mineralocorticoid Excess;syndrome of apparent mineralocorticoid excess (disorder)
Appendicular lean mass	EFO_0004980	Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture.	N/A
Arbovirus fever	MONDO_0018093	Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.	arbovirus fever
Arrhythmogenic right ventricular cardiomyopathy	Orphanet_247	Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.;Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes.	ARVC;ARVC cardiomyopathy;ARVD;Arrhythmogenic right ventricular cardiomyopathy;arrhythmogenic RVD;arrhythmogenic right ventricular cardiomyopathy;arrhythmogenic right ventricular dysplasia;arrhythmogenic right ventricular dysplasia/cardiomyopathy;right ventricular dysplasia
Arterial disorder	MONDO_0000473	An impairment of the structure or function of the blood vessels which carry blood away from the heart.	arterial disease;arterial disorder;arteriopathy;artery disease;artery disease or disorder;disease of artery;disease or disorder of artery;disorder of artery
Arterial occlusive disease	EFO_0009085	Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency. [ MeSH ]	Arterial Insufficiency;occlusive arterial disease
Arteriosclerosis disorder	MONDO_0002277	A vascular disorder characterized by thickening and hardening of the walls of the arteries.	arterial sclerosis;arteriosclerosis;arteriosclerotic cardiovascular disease;arteriosclerotic vascular disease;cardiovascular arteriosclerosis;vascular sclerosis
Arteriosclerosis	EFO_0009086	A vascular disorder characterized by thickening and hardening of the walls of the arteries. [ NCI ]	Arterial Sclerosis;Vascular Sclerosis
Arteriosclerosis	HP_0002634	Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.	N/A
Arteriosclerosis obliterans	EFO_1000820	Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION.;Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.	Arteriosclerosis Obliterans;Arteriosclerosis obliterans (disorder);Arteriosclerosis obliterans (disorder) [Ambiguous];arteriosclerosis obliterans;arteriosclerosis obliterans (disorder) [ambiguous]
Arteriovenous malformation	HP_0100026	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.	N/A
Arteritis	EFO_0009011	An inflammatory process affecting an artery.;An inflammatory process affecting an artery. [ NCI ]	arteritis;artery inflammation;inflammation of artery
Arthritis	EFO_0005856	An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.;Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints.	arthritides;arthritis;inflammation of skeletal joint;skeletal joint inflammation
Arx-related epileptic encephalopathy	Orphanet_182079	N/A	N/A
Aspartate aminotransferase measurement	EFO_0004736	Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function.	Aspartate transaminase measurement
Asphyxia neonatorum	EFO_1000824	Respiratory failure in the newborn. (Dorland, 27th ed)	Asphyxia - birth;Asphyxia NOS in liveborn infant;Asphyxia Neonatorum;Asphyxia, in liveborn infant (disorder);Birth asphyxia (disorder);Intrapartum asphyxia;Liveborn with birth asphyxia NOS;Liveborn with birth asphyxia NOS (disorder);Unspecified severity of birth asphyxia in liveborn infant;asphyxia - birth;asphyxia neonatorum;asphyxia, in liveborn infant;birth asphyxia;birth depression;fetal asphyxia;hie;hypoxic and ischemic brain injury in the newborn;hypoxic-ischemic encephalopathy;perinatal asphyxia;perinatal depression;perinatal hypoxia;postnatal asphyxia
Aspirin-induced asthma	HP_0012042	A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.	Aspirin-induced asthma
Asthma	EFO_0000270	A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.;A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.;A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.;A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).;Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.	ASTHMA NOS W (AC) EXAC;Airway hyperreactivity;Asthma (disorder);Asthma NOS;Asthma NOS (disorder);Asthma unspecified;Asthma unspecified (disorder);Asthma, Bronchial;Asthma, unspecified;Asthma, unspecified type, with acute exacerbation;Asthma, unspecified type, without mention of status asthmaticus;Asthmas;Asthmatic;BHR - Bronchial hyperreactivity;Bronchial Hyperreactivities;Bronchial asthma;Bronchial hyperreactivity;Bronchial hyperresponsiveness;Bronchial hypersensitivity;DUST PNEUMONOPATHY NEC;Exercise induced asthma;Exercise-induced asthma;Exercise-induced asthma (disorder);Hyperreactive airway disease;Hyperreactive airways disease;Hyperreactivities, Bronchial;Hyperreactivity, Bronchial;Other forms of asthma;Pneumonopathy due to inhalation of other dust;Pneumopathy due to inhalation of other dust;Pneumopathy due to inhalation of other dust (disorder);Pneumopathy due to inhalation of other dust NOS;Pneumopathy due to inhalation of other dust NOS (disorder);asthma;bronchial hyperreactivity;chronic obstructive asthma;chronic obstructive asthma with acute exacerbation;chronic obstructive asthma with status asthmaticus
Astigmatism	HP_0000483	A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.	N/A
Astrocytoma	EFO_0000272	A glial tumor of the brain or spinal cord showing astrocytic differentiation.  It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.;A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.;Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).;Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)	Astrocytic Glioma;Astrocytic Gliomas;Astrocytic Neoplasm;Astrocytic Tumor;Astrocytic tumor of brain;Astrocytic tumour of brain;Astrocytoma of brain;Astrocytoma of brain (disorder);Astrocytoma, Cerebral;Astrocytoma, Childhood Cerebral;Astrocytoma, Fibrillary;Astrocytoma, Gemistocytic;Astrocytoma, Grade I;Astrocytoma, Grade II;Astrocytoma, Grade III;Astrocytoma, Intracranial;Astrocytoma, Juvenile Pilocytic;Astrocytoma, NOS;Astrocytoma, Pilocytic;Astrocytoma, Protoplasmic;Astrocytoma, Subependymal Giant Cell;Astrocytoma, low grade;Astrocytoma, no ICD-O subtype;Astrocytomas;Astrocytomas, Cerebral;Astrocytomas, Childhood Cerebral;Astrocytomas, Fibrillary;Astrocytomas, Gemistocytic;Astrocytomas, Grade I;Astrocytomas, Grade II;Astrocytomas, Grade III;Astrocytomas, Intracranial;Astrocytomas, Juvenile Pilocytic;Astrocytomas, Pilocytic;Astrocytomas, Protoplasmic;Astroglioma;Astrogliomas;Cerebral Astrocytoma;Cerebral Astrocytoma, Childhood;Cerebral Astrocytomas;Cerebral Astrocytomas, Childhood;Childhood Cerebral Astrocytoma;Childhood Cerebral Astrocytomas;Cystic astrocytoma;Diffuse astrocytoma;Diffuse astrocytoma, low grade;Fibrillary Astrocytoma;Fibrillary Astrocytomas;Gemistocytic Astrocytoma;Gemistocytic Astrocytomas;Glioma, Astrocytic;Gliomas, Astrocytic;Grade I Astrocytoma;Grade I Astrocytomas;Grade II Astrocytoma;Grade II Astrocytomas;Grade III Astrocytoma;Grade III Astrocytomas;Intracranial Astrocytoma;Intracranial Astrocytomas;Juvenile Pilocytic Astrocytoma;Juvenile Pilocytic Astrocytomas;Mixed Oligoastrocytoma;Mixed Oligoastrocytomas;Oligoastrocytoma, Mixed;Oligoastrocytomas, Mixed;Pilocytic Astrocytoma;Pilocytic Astrocytoma, Juvenile;Pilocytic Astrocytomas;Pilocytic Astrocytomas, Juvenile;Protoplasmic Astrocytoma;Protoplasmic Astrocytomas;Subependymal Giant Cell Astrocytoma;[M]Astrocytoma NOS;astrocytic neoplasm;astrocytic tumor;astrocytoma of brain;astrocytoma of cerebrum;astrocytoma, no ICD-O subtype;astrocytoma, no ICD-O subtype (morphologic abnormality);astroglioma;cerebral astrocytoma
Astrocytoma (excluding glioblastoma)	MONDO_0019781	A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.	astrocytoma
Astrocytosis	HP_0002446	Proliferation of astrocytes in the area of a lesion of the central nervous system.	N/A
Asymptomatic myeloma	EFO_0003073	A plasma cell myeloma lacking clinical manifestations and organ impairment.	Asymptomatic Plasma Cell Myeloma;Smoldering Plasma Cell Myeloma;asymptomatic myeloma;asymptomatic plasma cell myeloma;smoldering Multiple myeloma/plasma cell myeloma;smoldering multiple myeloma;smoldering myeloma;smoldering plasma cell myeloma
Ataxia	HP_0001251	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).	Cerebellar ataxia
Ataxia-telangiectasia	Orphanet_100	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.	Louis Bar syndrome;Louis-Bar syndrome;ataxia - telangiectasia;ataxia telangiectasia;ataxia telangiectasia syndrome;boder-Sedgwick syndrome
Ataxia with dementia	Orphanet_98538	N/A	N/A
Atherosclerosis	EFO_0003914	A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.;Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.	Atherogenesis;Atheroscleroses;atherosclerosis;atherosclerosis of artery;atherosclerotic cardiovascular disease
Atopic eczema	EFO_0000274	A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.	Atopic Dermatitides;Atopic Dermatitis;Atopic Neurodermatitides;Atopic Neurodermatitis;Atopic dermatitis;Atopic dermatitis and related conditions (disorder);Atopic neurodermatitis;Besnier's prurigo;Dermatitides, Atopic;Dermatitis, Atopic;Disseminated Neurodermatitides;Disseminated Neurodermatitis;Eczema, Atopic;Eczema, Infantile;Infantile Eczema;Neurodermatitides, Atopic;Neurodermatitides, Disseminated;Neurodermatitis, Atopic;Neurodermatitis, Disseminated;OTHER ATOPIC DERMATITIS;Other atopic dermatitis and related conditions;allergic;allergic dermatitis;allergic form of dermatitis;atopic dermatitis and related conditions;atopic eczema;eczema;eczematous dermatitis;thyroid adenoma
Atrial fibrillation	EFO_0000275	A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC);Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation.	A-fib;AF;AF - Atrial fibrillation;AFib;Atrial Fibrillations;Atrial fibrillation (disorder);Auricular Fibrillation;Auricular Fibrillations;Fibrillation, Atrial;Fibrillation, Auricular;Fibrillations, Atrial;Fibrillations, Auricular;atrial fibrillation;atrial fibrillation (disease)
Atrial natriuretic factor measurement	EFO_0004789	Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. ANF  is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). Increased levels of ANP are associated with heart failure.	N/A
Atrioventricular canal defect	HP_0006695	A defect of the atrioventricular septum of the heart.	Atrioventricular septal defect;Endocardial cushion defect
Atrophic gastritis	EFO_1000826	Atrophic gastritis that is persistent and long-standing.;GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis.	Gastritides, atrophic;Gastritis, Atrophic;atrophic Gastritides;atrophic gastritis;chronic atrophic gastritis;gastric atrophy
Attention deficit hyperactivity disorder	EFO_0003888	A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV);A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.	ADD;ADDH;ADHD;ATTENTION DEFICIT DIS;ATTENTION DEFICIT DIS WITH HYPERACTIVITY;ATTENTION DEFICIT HYPERACTIVITY DIS;Attention Deficit Disorder;Attention Deficit Disorder with Hyperactivity;Attention Deficit Disorders;Attention Deficit Disorders with Hyperactivity;Attention Deficit Hyperactivity Disorders;Brain Dysfunction, Minimal;Deficit Disorder, Attention;Deficit Disorders, Attention;Disorder, Attention Deficit;Disorders, Attention Deficit;Dysfunction, Minimal Brain;Hyperkinetic Syndrome;Minimal Brain Dysfunction;Syndromes, Hyperkinetic;attention deficit disorder;attention deficit hyperactivity disorder;hyperkinetic disorder
Atypical teratoid rhabdoid tumor	EFO_1002008	An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the INI1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.;Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.	AT/RT;ATRT;ATT/RHT;Atypical Teratoid/Rhabdoid Tumor;CNS rhabdoid neoplasm;CNS rhabdoid tumor;atypical teratoid rhabdoid tumor;atypical teratoid/rhabdoid tumor;atypical teratoid/rhabdoid tumor (WHO grade IV);atypical teratoid/rhabdoid tumor (morphologic abnormality);central nervous system rhabdoid neoplasm;central nervous system rhabdoid tumor;malignant brain rhabdoid neoplasm;malignant brain rhabdoid tumor;malignant rhabdoid neoplasm of brain;malignant rhabdoid neoplasm of the brain;malignant rhabdoid tumor of brain;malignant rhabdoid tumor of the brain;primary malignant brain rhabdoid neoplasm;primary malignant brain rhabdoid tumor;primary malignant rhabdoid neoplasm of brain;primary malignant rhabdoid neoplasm of the brain;primary malignant rhabdoid tumor of brain;primary malignant rhabdoid tumor of the brain;rhabdoid neoplasm of CNS;rhabdoid neoplasm of central nervous system;rhabdoid neoplasm of the CNS;rhabdoid neoplasm of the central nervous system;rhabdoid tumor of CNS;rhabdoid tumor of central nervous system;rhabdoid tumor of the CNS;rhabdoid tumor of the central nervous system
Auditory system disease	EFO_1001455	A disease involving the auditory system.;Pathological processes of the ear, the hearing, and the equilibrium system of the body.	Destruction - ear drum;Unspecified disorder of ear;auditory disease;auditory system disease;auditory system disease or disorder;disease of auditory system;disease or disorder of auditory system;disorder of auditory system;disorder of ear;ear and mastoid disease;ear disease;ear disorder;ear disorder NOS;otologic disease;otological disease
Autism	EFO_0003758	A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV);A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years.;An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.	Autism, Early Infantile;Autism, Infantile;Autisms;Autistic Disorder;Autistic disorder of childhood onset (disorder);Disorder, Autistic;Disorders, Autistic;Early Infantile Autism;Infantile Autism;Infantile Autism, Early;Infantile autism (disorder);Infantile psychosis (disorder);Kanner Syndrome;Kanner's Syndrome;Kanner's syndrome;Kanners Syndrome;Syndrome, Kanner's;autism;autism (disease);autistic disorder of childhood onset;childhood autism;infantile autism
Autism spectrum disorder	EFO_0003756	A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior.;A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.;Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.;Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)	Autism Spectrum Disorders;CHILD DEVELOPMENT DIS PERVASIVE;Child Development Disorders, Pervasive;Development Disorder, Pervasive;Development Disorders, Pervasive;Disorder, Autism Spectrum;Disorder, Pervasive Development;Disorders, Autism Spectrum;Disorders, Pervasive Development;PERVASIVE CHILD DEVELOPMENT DIS;Pervasive Child Development Disorders;Pervasive Development Disorder;Pervasive Development Disorders;Spectrum Disorder, Autism;Spectrum Disorders, Autism;autism spectrum disease;autism spectrum disorder;autistic spectrum disorder;pervasive developmental disorders
Autism spectrum disorder symptom	EFO_0005426	Symptom associated with autism spectrum disorder such as impairment in verbal and nonverbal communication, social interactions, and/or imaginative play.	N/A
Autoimmune bullous skin disease	EFO_0008598	An autoimmune disease characterized by blisters on the skin.;Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. [ PMID:29159697 ]	autoimmune bullous skin disease;autoimmune diseases of the skin and mucous membrane;subepidermal autoimmune blistering disease;subepidermal autoimmune bullous disease;subepidermal autoimmune bullous diseases of the skin and mucosae
Autoimmune cardiomyopathy	MONDO_0030701	An autoimmune form of cardiomyopathy.	N/A
Autoimmune disease	EFO_0005140	Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease.	N/A
Autoimmune disease of blood	MONDO_0000602	A hypersensitivity reaction type II disease that involves the blood.	blood autoimmune disease;blood hypersensitivity reaction type II disease
Autoimmune disease of cardiovascular system	MONDO_0000603	A hypersensitivity reaction type II disease that involves the cardiovascular system.	cardiovascular system autoimmune disease;cardiovascular system hypersensitivity reaction type II disease
Autoimmune disease of central nervous system	MONDO_0000568	A hypersensitivity reaction type II disease that involves the central nervous system.	central nervous system autoimmune disease;central nervous system hypersensitivity reaction type II disease
Autoimmune disease of ear, nose and throat	MONDO_0000587	An autoimmune form of otorhinolaryngologic disease.	autoimmune otorhinolaryngologic disease
Autoimmune disease of endocrine system	MONDO_0000569	A hypersensitivity reaction type II disease that involves the endocrine system.	endocrine system autoimmune disease;endocrine system hypersensitivity reaction type II disease
Autoimmune disease of exocrine system	MONDO_0000586	A hypersensitivity reaction type II disease that involves the exocrine system.	exocrine system autoimmune disease;exocrine system hypersensitivity reaction type II disease
Autoimmune disease of gastrointestinal tract	MONDO_0000588	A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.	alimentary part of gastrointestinal system autoimmune disease;alimentary part of gastrointestinal system hypersensitivity reaction type II disease;autoimmune disease of alimentary part of gastrointestinal system
Autoimmune disease of musculoskeletal system	MONDO_0000589	A hypersensitivity reaction type II disease that involves the musculoskeletal system.	musculoskeletal system autoimmune disease;musculoskeletal system hypersensitivity reaction type II disease
Autoimmune disease of peripheral nervous system	MONDO_0000590	A hypersensitivity reaction type II disease that involves the peripheral nervous system.	peripheral nervous system autoimmune disease;peripheral nervous system hypersensitivity reaction type II disease
Autoimmune disease of the nervous system	MONDO_0002977	A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.	autoimmune disease of nervous system;autoimmune disease, neurologic;autoimmune diseases, nervous system;autoimmune diseases, neurologic;autoimmune disorders of the nervous system;autoimmune disorders, nervous system;autoimmune nervous system diseases;autoimmune nervous system disorder;disease, neurologic autoimmune;diseases, neurologic autoimmune;immune diseases, nervous system;immune disorders, nervous system;nervous system autoimmune disease;nervous system autoimmune diseases;nervous system hypersensitivity reaction type II disease;nervous system immune diseases;nervous system immune disorders;neurologic autoimmune disease;neurologic autoimmune diseases
Autoimmune disease of urogenital tract	MONDO_0000601	A hypersensitivity reaction type II disease that involves the genitourinary system.	autoimmune disease of genitourinary system;genitourinary system autoimmune disease;genitourinary system hypersensitivity reaction type II disease
Autoimmune disease with skin involvement	MONDO_0017841	A hypersensitivity reaction type II disease that involves the skin of body.	autoimmune disease of skin and connective tissue;integument hypersensitivity reaction type II disease;skin of body hypersensitivity reaction type II disease
Autoimmune glomerulonephritis	MONDO_0030700	An autoimmune form of glomerulonephritis (disease).	autoimmune glomerulonephritis (disease)
Autoimmune hepatitis	EFO_0005676	Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.	AIH;autoimmune chronic active hepatitis;autoimmune hepatitis;autoimmune hepatitis with centrilobular necrosis;autoimmune-like hepatitis;chronic autoimmune hepatitis
Autoimmune lymphoproliferative syndrome	Orphanet_3261	Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.	ALPS;Canale-Smith syndrome;FAS deficiency
Autoimmune myocarditis	MONDO_0022519	Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.	N/A
Autoimmune neuropathy	MONDO_0000774	An autoimmune form of peripheral neuropathy.	autoimmune peripheral neuropathy
Autoimmune retinopathy	MONDO_0100014	An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.	AIR;autoimmune disease of retina;retina autoimmune disease
Autoimmune thrombocytopenia	MONDO_0019098	An autoimmune form of thrombocytopenia.	N/A
Autoimmune thrombocytopenic purpura	EFO_0007160	A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.;An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.	Autoimmune thrombocytopenic purpura;ITP;Immune thrombocytopenic purpura (disorder);Purpura, Thrombocytopenic, Idiopathic;autoimmune thrombocytopenic purpura;idiopathic thrombocytopenia;idiopathic thrombocytopenia purpura;idiopathic thrombocytopenic purpura;immune thrombocytopenia;primary thrombocytopenic purpura;thrombocytopenic purpura, autoimmune
Autoimmune thyroid disease	EFO_0006812	Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.;a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroid’s cells, thereby destroying it.It presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters.	Autoimmune Thyroiditides;Autoimmune Thyroiditis;Thyroiditides, Autoimmune;autoimmune thyroid disease;autoimmune thyroid gland inflammation;autoimmune thyroiditis
Autoimmune uveitis	MONDO_0031012	An autoimmune form of uveitis (disease).	autoimmune uveitis (disease)
Autoinflammatory syndrome	MONDO_0019751	A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.	N/A
Autoinflammatory syndrome with immune deficiency	Orphanet_290839	N/A	N/A
Autoinflammatory syndrome with skin involvement	MONDO_0017370	N/A	N/A
Autonomic nervous system disease	EFO_0009532	A disease involving the autonomic nervous system.	autonomic nervous disease;autonomic nervous system disease;autonomic nervous system disease or disorder;autonomic nervous system disorder;disease of autonomic nervous system;disease or disorder of autonomic nervous system;disorder of autonomic nervous system;disorder of peripheral autonomic nervous system;dysautonomia
Autonomic nervous system neoplasm	MONDO_0002366	Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.	autonomic nervous system neoplasm;autonomic nervous system neoplasm (disease);autonomic nervous system neoplasms;autonomic nervous system tumor;neoplasm of autonomic nervous system;neoplasm of the autonomic nervous system;tumor of autonomic nervous system;tumor of the autonomic nervous system
Autosomal anomaly	Orphanet_98127	N/A	N/A
Autosomal dominant cerebellar ataxia	Orphanet_99	Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy.	ADCA;Autosomal dominant spinocerebellar ataxia;autosomal dominant cerebellar ataxia;autosomal dominant spinocerebellar ataxia;cerebellar ataxia, autosomal dominant
Autosomal dominant cerebellar ataxia type ii	Orphanet_208508	N/A	ADCA2;ADCAII;Autosomal dominant cerebellar ataxia type 2
Autosomal dominant cerebellar ataxia type i	Orphanet_94145	Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	ADCA1;ADCAI;Autosomal dominant cerebellar ataxia type 1;Cerebellar plus syndrome
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Orphanet_98353	N/A	Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature
Autosomal dominant disease	MONDO_0000426	Autosomal dominant form of disease.	autosomal dominant disease or disorder;autosomal dominant hereditary disorder;autosomal dominant inherited disorder;disease or disorder, autosomal dominant;disease, autosomal dominant
Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Orphanet_140453	N/A	N/A
Autosomal dominant polycystic kidney disease	EFO_1001496	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.;Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys.	ADPKD;ADPKD - Autosomal dominant polycystic kidney disease;Autosomal dominant adult polycystic kidney disease;Autosomal dominant polycystic kidney disease;Polycystic kidney disease, adult type (disorder);Polycystic kidneys - adult type;adult type autosomal dominant polycystic kidney disease;autosomal dominant polycystic kidney disease;polycystic kidney disease, adult type;polycystic kidney disease, autosomal dominant;polycystic kidney, autosomal dominant
Autosomal genetic disease	MONDO_0000429	A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.	autosomal hereditary disorder;autosomal inherited disease;autosomal inherited disorder
Autosomal ichthyosis syndrome	Orphanet_281217	N/A	N/A
Autosomal ichthyosis syndrome with fatal disease course	Orphanet_281241	N/A	N/A
Autosomal monosomy	Orphanet_102020	N/A	Autosomal deletion
Autosomal recessive cerebellar ataxia due to a dna repair defect	Orphanet_98097	N/A	N/A
Autosomal recessive cerebellar ataxia	Orphanet_1172	Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.	ARCA
Autosomal recessive degenerative and progressive cerebellar ataxia	Orphanet_98098	N/A	N/A
Autosomal recessive disease	EFO_1000017	An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.;Autosomal recessive form of disease.	autosomal recessive disease;autosomal recessive disease or disorder;autosomal recessive hereditary disease;autosomal recessive hereditary disorder;autosomal recessive inherited disease;autosomal recessive inherited disorder;disease or disorder, autosomal recessive;disease, autosomal recessive
Autosomal recessive distal myopathy	Orphanet_206653	N/A	N/A
Autosomal recessive hereditary sensory and autonomic neuropathy	Orphanet_140477	N/A	N/A
Autosomal recessive limb-girdle muscular dystrophy	Orphanet_102015	N/A	N/A
Autosomal recessive limb-girdle muscular dystrophy type 2a	Orphanet_267	Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.	LGMD2A;Limb-girdle muscular dystrophy due to calpain deficiency;Primary calpainopathy
Autosomal recessive optic atrophy	Orphanet_98675	N/A	N/A
Autosomal recessive polycystic kidney disease	Orphanet_731	Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.	AR-PKD
Autosomal recessive syndromic optic atrophy	Orphanet_98677	N/A	N/A
Autosomal trisomy	Orphanet_98130	N/A	Autosomal duplication
Avascular necrosis	MONDO_0018373	Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.	AVN;avascular necrosis of bone
Avascular necrosis of genetic origin	Orphanet_399388	N/A	N/A
Avian influenza	EFO_0005222	An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.;Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.	avian flu;avian influenza;bird flu
Axial length measurement	EFO_0005318	quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry	AL;axial length;ocular axial length
Azoospermia	EFO_0000279	A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.;Complete absence of spermatozoa in the semen.	Azoospermia (finding);Count, Low Sperm;Counts, Low Sperm;Low Sperm Count;Low Sperm Counts;Oligospermia;Oligozoospermia;Sperm Count, Low;Sperm Counts, Low;azoospermia;spermatogenic failure
Bacterial disease	EFO_0000771	A bacterial disease is a disease factor that is caused primarily by bacteria.;An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.	Bacteria caused disease or disorder;Bacteria disease or disorder;Bacteria infectious disease;bacterial disease;bacterial disorder;bacterial infection;bacterial infectious disease;infection, bacterial
Bacterial meningitis	EFO_1000831	Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots.;Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.	Bacteria caused infectious meningitis;Bacteria infectious meningitis;Meningitis, Bacterial;bacterial meningitis
Bacterial sexually transmitted disease	EFO_0003955	Bacterial diseases that are potentially transmitted or propagated by sexual conduct.;Bacterial diseases transmitted or propagated by sexual conduct.	BACT SEX TRANSM DIS;BACT VENEREAL DIS;Bacterial Sexually Transmitted Diseases;Bacterial Venereal Disease;Bacterial Venereal Diseases;Disease, Bacterial Venereal;Diseases, Bacterial Venereal;SEX TRANSM DIS BACT;Sexually Transmitted Disease, Bacterial;Sexually Transmitted Diseases, Bacterial;VENEREAL DIS BACT;Venereal Disease, Bacterial;Venereal Diseases, Bacterial;bacterial sexually transmitted disease
Bacteriemia	EFO_0003033	An infectious disease caused by bacteria causing sepsis.;Bacteremia (also bacteraemia) is the presence of bacteria in the blood. Blood is normally a sterile environment, so the detection of bacteria in the blood (most commonly accomplished by blood cultures) is always abnormal. Bacteria can enter the bloodstream as a severe complication of infections (like pneumonia or meningitis), during surgery (especially when involving mucous membranes such as the gastrointestinal tract), or due to catheters and other foreign bodies entering the arteries or veins (including during intravenous drug abuse).Bacteremia can have several consequences. The immune response to the bacteria can cause sepsis and septic shock, which has a relatively high mortality rate. Bacteria can also use the blood to spread to other parts of the body (which is called hematogenous spread), causing infections away from the original site of infection. Examples include endocarditis or osteomyelitis. Treatment is with antibiotics, and prevention with antibiotic prophylaxis can be given in situations where problems are to be expected.	Bacteremia (disorder);Bacteremia NOS (disorder);Bacteremia, NOS;Unspecified bacteraemia;Unspecified bacteremia;Unspecified bacteremia (context-dependent category);bacteraemia;bacteremia;bacterial infectious disease with sepsis;symptomatic bacteremia
Balkan nephropathy	EFO_0007164	A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.;An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.	Balkan Nephropathy;Balkan endemic nephropathy;Balkan nephropathy;Chinese herb endemic nephropathy;Danubian endemic familial nephropathy;aristolochic acid nephropathy;endemic nephropathy
B- and t-cell mixed leukemia	EFO_1000828	An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS.;An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)	Leukemia, Biphenotypic, Acute;b- and T-cell mixed leukemia
Barrett's esophagus	EFO_0000280	A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.;Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)	(ulcerative esophagitis) or (Barrett's esophagus);BE;Barrett Epithelium;Barrett Esophagus;Barrett Syndrome;Barrett esophagus;Barrett's Syndrome;Barrett's esophagus;Barrett's esophagus (disorder);Barrett's esophagus (disorder) [Ambiguous];Barrett's esophagus with esophagitis;Barrett's esophagus with esophagitis (disorder);Barrett's oesophagus;Barrett's ulcer of esophagus;Barrett's ulcer of esophagus (disorder);Barretts Esophagus;Barretts syndrome;CLE;Epithelium, Barrett;Esophagus, Barrett;Esophagus, Barrett's;Syndrome, Barrett;Syndrome, Barrett's;cello;columnar epithelial-lined Lower esophagus;columnar-lined esophagus;ulcerative esophagitis
Basal cell carcinoma	EFO_0004193	A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471).;The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.	BCC;Rodent ulcer;Skin Basal Cell Carcinoma;basal cell cancer;basal cell carcinoma;basal cell carcinoma of skin;basal cell carcinoma of the skin;basal cell epithelioma;basal cell neoplasm;basal cell skin carcinoma;carcinoma, basal cell;epithelioma basal cell;malignant basal cell neoplasm;skin basal cell cancer;skin basal cell carcinoma
Basal ganglia disease	EFO_0009533	A disease involving the basal ganglia.	basal ganglia disease;collection of basal ganglia disease;collection of basal ganglia disease or disorder;disease of basal ganglia;disease of collection of basal ganglia;disease or disorder of collection of basal ganglia;disorder of collection of basal ganglia
Basement membrane disease	Orphanet_93550	N/A	N/A
Basophil count	EFO_0005090	The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.;quantification of basophils in the blood	blood basophil count
Basophil percentage of granulocytes	EFO_0007995	A calculated measurement in which the number of basophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage.	N/A
Basophil percentage of leukocytes	EFO_0007992	A calculated measurement in which the number of basophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A basophil is a granular leukocyte with an irregularly shaped, relatively pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm containing coarse granules of variable size that stain bluish-black when exposed to basic dyes.	basophil count as percentage of total white blood cells;basophil count to total WBC count ratio;basophil percentage;basophil percentage of white cells;blood basophil count to total leukocyte count ratio
B-cell acute lymphoblastic leukemia	EFO_0000094	A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells.  When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia).  When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003;A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)	B Lymphoblastic Leukemia/Lymphoma;B lymphoblastic leukemia/lymphoma;B-ALL;B-cell acute lymphoblastic leukemia;B-precursor acute lymphoblastic leukemia;Precursor B Lymphoblastic Leukemia/Lymphoma;Precursor B-Lymphoblastic Lymphoma/Leukemia;precursor B lymphoblastic leukemia/lymphoma;precursor B lymphoblastic lymphoma/leukemia;precursor B-lymphoblastic lymphoma/leukemia
B cell deficiency	MONDO_0002211	A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.	B cell (antibody) deficiencies;B-cell deficiency;deficiency of humoral immunity
B-cell neoplasm	MONDO_0004095	A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.	B-cell lymphocytic neoplasm;B-cell neoplasm
B-cell non-hodgkins lymphoma	EFO_1001938	The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003;The most common type of non-Hodgkins lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma.	B-cell NHL;B-cell lymphoma;B-cell non Hodgkin's lymphoma;B-cell non-Hodgkin lymphoma;B-cell non-Hodgkin's lymphoma;lymphomas non-Hodgkin's B-cell;non-Hodgkin's B-cell lymphoma;non-Hodgkin's lymphoma B-cell
B-cell prolymphocytic leukemia	EFO_1000102	A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001);A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.	B prolymphocytic leukemia;B-PLL;B-cell prolymphocytic leukemia
Becker muscular dystrophy	Orphanet_98895	Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	BMD;Becker dystrophinopathy
Beckwith-wiedemann syndrome	Orphanet_116	Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.	BWS;Exomphalos-macroglossia-gigantism syndrome;Wiedemann-Beckwith syndrome
Behavioral abnormality	HP_0000708	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.	Behavioral changes;Behavioral disorders;Behavioral disturbances;Behavioral problems;Behavioral/psychiatric abnormalities;Behavioural/Psychiatric abnormality;Psychiatric disorders;Psychiatric disturbances
Behavior	GO_0007610	The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. E.g. Fixed action pattern courtship behaviour in Drosophila. Forager behaviour in honey bees.;The observable response a person makes to any situation.	Acceptance Process;Acceptance Processes;Behaviors;Process, Acceptance;Processes, Acceptance;behaviour
Behcet's syndrome	EFO_0003780	A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.;Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.;Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.	Adamantiades-Behcet disease;BEHCET DIS;Bechet syndrome;Behcet Disease;Behcet disease;Behcet syndrome;Behcet's disease;Behcet's syndrome;Behcets Syndrome;Behet's syndrome;Behet's syndrome (disorder);Behçet disease;Behçet syndrome;Behçet's syndrome;Behçet-Adamantiades syndrome;Morbus Behçet's syndrome;Triple-Symptom Complex;silk road disease;triple symptom complex
Benign blood vessel neoplasm	MONDO_0024286	A benign neoplasm arising from arteries or veins.	benign blood vessel neoplasm;benign blood vessel tumor
Benign conjunctival neoplasm	EFO_1000110	Abnormal growth of the cells of the conjunctiva without malignant characteristics.	benign conjunctiva neoplasm;benign conjunctiva tumor;benign conjunctival neoplasm;benign conjunctival tumor;benign neoplasm of conjunctiva;benign neoplasm of the conjunctiva;benign tumor of conjunctiva;benign tumor of the conjunctiva;conjunctiva benign neoplasm
Benign connective and soft tissue neoplasm	MONDO_0000654	A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.	benign connective and soft tissue neoplasm;benign connective and soft tissue tumor;benign mesenchymal cell neoplasm;benign neoplasm of the soft tissue and bone;benign tumor of the soft tissue and bone;connective and soft tissue neoplasm, benign;connective tissue benign neoplasm
Benign epithelial neoplasm	MONDO_0036976	A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.	benign epithelial neoplasm;benign epithelial tumor;benign epithelioma;benign neoplasm of epithelium;benign neoplasm of the epithelium;benign tumor of epithelium;benign tumor of the epithelium;epithelial neoplasm, benign;epithelioma, benign
Benign epithelial skin neoplasm	MONDO_0024666	A form of epithelial skin neoplasm without malignant characteristics.	benign epithelial skin neoplasm;benign epithelial skin tumor;benign skin epithelium neoplasm;benign skin epithelium tumor;epithelial skin neoplasm, benign
Benign familial mesial temporal lobe epilepsy	Orphanet_163717	N/A	Benign FMTLE
Benign female reproductive system neoplasm	MONDO_0000624	A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.	benign female reproductive system neoplasm;benign female reproductive system tumor;benign gynecologic neoplasm;benign gynecologic tumor;female reproductive organ benign neoplasm
Benign lipomatous neoplasm	MONDO_0044983	A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.	adipose tissue benign connective and soft tissue neoplasm;benign adipose tissue neoplasm;benign adipose tissue tumor;benign connective and soft tissue neoplasm of adipose tissue;benign lipomatous neoplasm;benign lipomatous tumor;benign neoplasm of adipose tissue;benign neoplasm of the adipose tissue;benign tumor of adipose tissue;benign tumor of the adipose tissue
Benign muscle neoplasm	MONDO_0003061	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.	benign muscle neoplasm;benign muscle tumor;benign neoplasm of muscle;benign neoplasm of the muscle;benign tumor of muscle;benign tumor of the muscle;muscle neoplasm;muscle tissue neoplasm;myoma;myomatous neoplasm;myomatous tumor;neoplasm of muscle
Benign neoplasm	EFO_0002422	A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.	BENIGN NEOPL;Benign Neoplasm;Benign Neoplasms;NEOPL BENIGN;Neoplasm, Benign;Neoplasms, Benign;benign neoplasm;benign neoplasm (disease);benign tumor;neoplasm (disease), benign
Benign neoplasm of cornea	MONDO_0021452	A benign neoplasm that involves the cornea.	benign cornea neoplasm;benign cornea tumor;benign corneal neoplasm;benign corneal tumor;benign neoplasm of the cornea;benign tumor of cornea;benign tumor of the cornea;cornea benign neoplasm
Benign neoplasm of corpus uteri	MONDO_0021525	A benign neoplasm that involves the body of uterus.	benign corpus uteri neoplasm;benign corpus uteri tumor;benign neoplasm of body of uterus;benign neoplasm of the body of uterus;benign neoplasm of the corpus uteri;benign neoplasm of the uterine body;benign neoplasm of the uterine corpus;benign neoplasm of uterine body;benign neoplasm of uterine corpus;benign tumor of body of uterus;benign tumor of corpus uteri;benign tumor of the body of uterus;benign tumor of the corpus uteri;benign tumor of the uterine body;benign tumor of the uterine corpus;benign tumor of uterine body;benign tumor of uterine corpus;benign uterine body neoplasm;benign uterine body tumor;benign uterine corpus neoplasm;benign uterine corpus tumor;body of uterus benign neoplasm
Benign neoplasm of eye	MONDO_0021454	A benign neoplasm that involves the eye.	benign eye neoplasm;benign eye tumor;benign neoplasm of the eye;benign ocular neoplasm;benign ocular tumor;benign tumor of eye;benign tumor of the eye;eye benign neoplasm
Benign neoplasm of skin	MONDO_0021440	A benign neoplasm that involves the zone of skin.	benign cutaneous neoplasm;benign cutaneous tumor;benign neoplasm of the skin;benign skin neoplasm;benign skin tumor;benign tumor of skin;benign tumor of the skin;skin neoplasms, benign;zone of skin benign neoplasm
Benign peripheral nerve sheath tumor	MONDO_0016752	N/A	BPNST
Benign prostatic hyperplasia	EFO_0000284	A disease caused by hyperplastic process of non-transformed prostatic cells.;A non-cancerous nodular enlargement of the prostate gland.  It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements.  It is the most common urologic disorder in men, causing blockage of urine flow.;A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.;Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.	Adenofibromatous hypertrophy of prostate;Adenofibromatous hypertrophy of prostate, NOS;Adenoma, Prostatic;Adenomas, Prostatic;Adenomyomatous hyperplasia of prostate gland;BEP - Benign enlargement of prostate;BPH;BPH - Benign prostatic hypertrophy;Benign Hyperplasia of Prostate;Benign Hyperplasia of the Prostate;Benign Prostate Hyperplasia;Benign Prostatic Hyperplasia - BPH;Benign adenoma of prostate;Benign enlargement of prostate;Benign enlargement of prostate, NOS;Benign fibroma of prostate;Benign myoma of prostate;Benign prostatic hyperplasia (disorder);Benign prostatic hyperplasia, NOS;Enlarged prostate - benign;Fibromuscular hyperplasia of prostate gland;Glandular, stromal AND/OR muscular hyperplasia of prostate gland;Glandular, stromal and muscular hyperplasia of prostate gland;Hyperplasia of prostate;Hyperplasia of prostate (disorder);Hyperplasia of prostate, NOS;Hyperplasia, Prostatic;Hypertrophy (benign) of prostate;Hypertrophy, Benign Prostatic;Lobular hyperplasia of prostate gland;Nodular hyperplasia of prostate gland;Prostatauxe;Prostatic Adenoma;Prostatic Adenomas;Prostatic Hyperplasia;Prostatic Hyperplasia, Benign;Prostatic Hypertrophy, Benign;Prostatic area hypertrophy;Prostatic hyper -benign;Prostatic hypertrophy;benign hyperplasia of prostate;benign hyperplasia of the prostate;benign hypertrophy of prostate NOS;benign prostate hyperplasia;benign prostatic Hypertrophy;benign prostatic hyperplasia;benign prostatic hyperplasia (disease);benign prostatic hyperplasia - BPH;benign prostatic hypertrophy
Benign reproductive system neoplasm	MONDO_0000383	A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.	benign reproductive system neoplasm;reproductive organ benign neoplasm
Benign smooth muscle neoplasm	EFO_1000121	A benign mesenchymal neoplasm arising from smooth muscle tissue.	benign neoplasm of smooth muscle;benign neoplasm of the smooth muscle;benign smooth muscle neoplasm;benign smooth muscle tumor;benign tumor of smooth muscle;benign tumor of the smooth muscle;smooth muscle tissue benign neoplasm
Beta-2 microglobulin measurement	EFO_0005197	A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage.	N/A
Beta-endorphin measurement	EFO_0008034	quantification of the amount of beta-endorphin in a sample	N/A
Beta-nerve growth factor measurement	EFO_0008035	quantification of the amount of beta-nerve growth factor in a sample	N/A
Bicuspid aortic valve	HP_0001647	The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).	N/A
Bilateral microtia-deafness-cleft palate syndrome	Orphanet_140963	This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	bilateral microtia-deafness-cleft palate syndrome
Bile duct adenocarcinoma	MONDO_0003193	A carcinoma that arises from glandular epithelial cells of the bile duct	bile duct adenocarcinoma
Bile duct cancer	MONDO_0003059	A malignant neoplasm involving the bile duct	Ca extrahepatic bile ducts;bile duct cancer;bile duct tumor;cancer of bile duct;malignant bile duct neoplasm;malignant neoplasm of bile duct;malignant neoplasm of the extrahepatic bile duct
Bile duct carcinoma	EFO_0005540	A carcinoma that arises from epithelial cells of the bile duct;A carcinoma that starts in the bile duct.	bile duct cancer (including cholangiocarcinoma);bile duct carcinoma;carcinoma of bile duct
Bile duct disease	MONDO_0002887	A disease involving the bile duct.	bile duct disease;bile duct disease or disorder;bile duct disorder;disease of bile duct;disease or disorder of bile duct;disorder of bile duct
Bile duct neoplasm	MONDO_0021662	A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.	bile duct neoplasm;bile duct neoplasm (disease);bile duct tumor;intrahepatic and extrahepatic bile duct neoplasm;intrahepatic and extrahepatic bile duct tumor;neoplasm of bile duct;tumor of bile duct
Biliary liver cirrhosis	EFO_0004267	FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.	biliary cirrhosis
Biliary tract cancer	MONDO_0003060	A malignant neoplasm involving the biliary tree	biliary tree cancer;cancer of biliary tree;malignant biliary tree neoplasm;malignant neoplasm of biliary tree;malignant tumour of biliary tract
Biliary tract disease	EFO_0009534	A disease involving the biliary tree.	biliary tract disease;biliary tree disease;biliary tree disease or disorder;disease of biliary tree;disease or disorder of biliary tree;disorder of biliary tree
Biliary tract neoplasm	EFO_0003891	A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.;Tumors in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.	BILIARY TRACT NEOPL;Biliary Tract Neoplasms;NEOPL BILIARY TRACT;Neoplasm, Biliary Tract;Neoplasms, Biliary Tract;biliary tract neoplasm;biliary tract neoplasm (disease);biliary tree neoplasm;biliary tree neoplasm (disease);biliary tree tumor;extrahepatic bile duct neoplasm;neoplasm of biliary tree;neoplasm of extrahepatic bile ducts;tumor of biliary tree;tumor of the extrahepatic bile duct
Bilineal acute myeloid leukemia	MONDO_0011118	An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003	acute Bilineal leukemia
Bilirubin measurement	EFO_0004570	A bilirubin measurement is a quantification of bilirubin typically measured in serum.	bilirubin levels
Bipolar disorder	EFO_0000289	A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.;A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).;A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.	Affective Bipolar Psychosis;Affective Psychosis, Bipolar;BIPOLAR DIS;BIPOLAR DISORDER NOS;Bipolar Affective Psychosis;Bipolar Depression;Bipolar Disorders;Bipolar affective disorder;Bipolar affective disorder , current episode mixed (disorder);Bipolar affective disorder, current episode depression (disorder);Bipolar affective disorder, manic, unspecified degree;Bipolar affective disorder, mixed, unspecified degree;Bipolar disorder (disorder);Bipolar disorder, NOS;Bipolar disorder, unspecified;Depression, Bipolar;Depressive-manic psych.;Disorder, Bipolar;Disorder, Manic;MANIC DEPRESSIVE ILLNESS;MANIC DIS;MDI - Manic-depressive illness;Mania;Manias;Manic Bipolar Affective disorder;Manic Depressive Psychosis;Manic Depressive disorder;Manic Disorder;Manic Disorders;Manic State;Manic States;Manic bipolar I disorder;Manic bipolar I disorder (disorder);Manic-Depression;Manic-Depressive Psychoses;Manic-depressive illness;Manic-depressive psychosis;Manic-depressive syndrome NOS;Psychoses, Bipolar Affective;Psychoses, Manic Depressive;Psychoses, Manic-Depressive;Psychosis, Bipolar Affective;Psychosis, Manic Depressive;Psychosis, Manic-Depressive;State, Manic;States, Manic;Unspecified bipolar affective disorder;Unspecified bipolar affective disorder (disorder);Unspecified bipolar affective disorder, NOS;Unspecified bipolar affective disorder, NOS (disorder);Unspecified bipolar affective disorder, unspecified;Unspecified bipolar affective disorder, unspecified (disorder);[X]Bipolar affective disorder, unspecified;[X]Bipolar affective disorder, unspecified (disorder);bipolar depression;bipolar disease;bipolar disorder;bipolar disorder manic phase;major affective disorder;manic depressive disorder;manic-depression;mixed bipolar I disorder (disorder);mixed bipolar affective disorder (disorder);mixed bipolar affective disorder, NOS (disorder);mixed bipolar disorder
Birth weight	EFO_0004344	The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.	birthweight
Bladder adenocarcinoma	EFO_1000125	A carcinoma that arises from glandular epithelial cells of the urinary bladder;A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder.	adenocarcinoma of bladder;adenocarcinoma of the bladder;adenocarcinoma of the urinary bladder;adenocarcinoma of urinary bladder;bladder adenocarcinoma;urinary bladder adenocarcinoma
Bladder carcinoma	EFO_0000292	A carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.;A carcinoma that arises from epithelial cells of the urinary bladder;A carcinoma that arises_from tissues of the bladder.;A carcinoma that forms in tissues of the bladder.;Bladder carcinoma is a carcinoma arising from the bladder epithelium.  Approximately 90% of the bladder carcinomas are transitional cell carcinomas.  The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.	Carcinoma of the Bladder;Carcinoma of the Urinary Bladder;Urinary Bladder Carcinoma;bladder carcinoma;carcinoma bladder;carcinoma of bladder;carcinoma of bladder (disorder);carcinoma of the bladder;carcinoma of the urinary bladder;carcinoma of urinary bladder;urinary bladder carcinoma
Bladder disease	EFO_1000018	A disease involving the urinary bladder.;A disorder affecting the urinary bladder	bladder disease;bladder disorder;disease of urinary bladder;disease or disorder of urinary bladder;disorder of urinary bladder;urinary bladder disease;urinary bladder disease or disorder;urinary bladder disorder
Bladder neck obstruction	EFO_1000840	Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.;Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands.	Obstruction of bladder neck or vesicourethral orifice;Urinary Bladder Neck Obstruction;bladder neck obstruction;bladder neck obstruction (disorder);obstruction of bladder neck or vesicourethral orifice
Bladder transitional cell carcinoma	EFO_0006544	The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.	bladder transitional carcinoma;bladder transitional cell carcinoma;bladder urothelial cancer;bladder urothelial carcinoma;transitional cell carcinoma of bladder;transitional cell carcinoma of the urinary bladder;urinary bladder transitional cell carcinoma;urinary bladder urothelial carcinoma;urothelial bladder carcinoma;urothelial carcinoma of the urinary bladder
Bladder tumor	EFO_0000294	A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003;An abnormal growth, i.e. tumor, located in the bladder.	Bladder Neoplasm;Bladder Tumors;NEOPL BLADDER;NGB - New growth of bladder;Neoplasm of Bladder;Neoplasm of Urinary Bladder;Neoplasm of the Bladder;Neoplasm of the Urinary Bladder;Neoplasm, Bladder;Neoplasm, Urinary Bladder;Neoplasms, Bladder;Tumor of Bladder;Tumor of Urinary Bladder;Tumor of the Bladder;Tumor of the Urinary Bladder;Tumor, Bladder;Tumors, Bladder;Tumour of urinary bladder;URINARY BLADDER NEOPL;Urinary Bladder Neoplasm;Urinary Bladder Neoplasms;Urinary Bladder Tumor;Urinary Bladder Tumors;bladder neoplasm;bladder tumor;bladder tumors;neoplasm of bladder;neoplasm of bladder (disorder);neoplasm of the bladder;neoplasm of the urinary bladder;neoplasm of urinary bladder;tumor of bladder;tumor of the bladder;tumor of the urinary bladder;tumor of urinary bladder;urinary bladder neoplasm;urinary bladder neoplasm (disease);urinary bladder neoplasms;urinary bladder tumor;urinary bladder tumors
Blepharophimosis-epicanthus inversus-ptosis syndrome	Orphanet_126	Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF; see this term) (type II).	Blepharophimosis types 1 and 2
Blindness	HP_0000618	Blindness is the condition of lacking visual perception due to physiological or neurological factors.	N/A
Blood coagulation disease	EFO_0009314	A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.;A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIT:C2902 ]	Blood Coagulation Disorder;Coagulation Defect;Coagulation Disorder;Coagulation Disorder, Blood;Coagulation Disorders, Blood;Coagulopathy;Disorder, Blood Coagulation;Disorders, Blood Coagulation;blood coagulation disease;blood coagulation disorder;clotting disorder;coagulation defect;coagulation disorder;coagulation disorder, blood;coagulation disorders, blood;coagulopathy;disorder, blood coagulation;disorders, blood coagulation;excessive bleeding;postpartum coagulation defect;postpartum coagulation defect with delivery
Blood metabolite measurement	EFO_0005664	quantification of some metabolite in blood	N/A
Blood osmolality measurement	EFO_0007967	quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations	N/A
Blood platelet disease	MONDO_0002245	Disorders caused by abnormalities in platelet count or function.	platelet abnormality;platelet disorder
Blood protein disease	MONDO_0003804	N/A	blood protein disorder
Blood sedimentation	EFO_0004304	Measurement of rate of settling of erythrocytes in anticoagulated blood.	erythrocyte sedimentation;erythrocyte sedimentation rate
Blood vessel neoplasm	MONDO_0021080	A neoplasm arising from arteries or veins.	blood vessel neoplasm;blood vessel neoplasm (disease);blood vessel tumor;neoplasm of blood vessel;tumor of blood vessel
Bmi-adjusted waist circumference	EFO_0007789	waist circumference measurement that has been adjusted by subjects’ body mass index	N/A
Bmi-adjusted waist-hip ratio	EFO_0007788	waist-hip ratio that has been adjusted by subjects’ body mass index	N/A
Body composition measurement	EFO_0005106	measurement of the percentages of fat, bone and muscle in human bodies	N/A
Body fat percentage	EFO_0007800	Quantification of the amount of body fat as a percentage of total body mass, calculated as either total mass of fat divided by total body mass or one of a number of more complex weighted equations. Body fat includes essential body fat and storage body fat. 	N/A
Body height	EFO_0004339	The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.	height
Body mass index	EFO_0004340	An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)	BMI;Quetelet's Index
Body weight	EFO_0004338	The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.	weight
Body weight loss	EFO_0005245	the process of decreasing the mass of an organsim over time	N/A
Bone cancer	MONDO_0002129	A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.	CA - bone cancer;bone cancer;bone neoplasm;bone tumour;cancer of bone;cancer of skeletal element;cancer of the bone;malignant bone neoplasm;malignant bone tumor;malignant bone tumour;malignant neoplasm of bone;malignant neoplasm of skeletal element;malignant neoplasm of the bone;malignant osseous neoplasm;malignant osseous tumor;malignant skeletal element neoplasm;malignant tumor of bone;malignant tumor of the bone;neoplasm of bone;osseous cancer;osseous tumor;skeletal element cancer
Bone carcinoma	MONDO_0002415	A carcinoma that involves the bone element.	bone element carcinoma;carcinoma of bone element
Bone density	EFO_0003923	The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.	BMD;Bone Densities;Bone Mineral Densities;Bone Mineral Density;Density, Bone;Density, Bone Mineral;aBMD;areal bone mineral density
Bone deterioration disease	MONDO_0000834	A bone structure disease that results_in change or damage of structure located_in bone.	N/A
Bone development disease	EFO_0005541	A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.;A disease involving the bone development.	bone development disease;bone development disease or disorder;disease of bone development;disease or disorder of bone development;disorder of bone development
Bone disease	EFO_0004260	Diseases of BONES.;Diseases of bones.	bone disease;bone element disease;bone element disease or disorder;disease of bone element;disease or disorder of bone element;disorder of bone element
Bone giant cell tumor	EFO_0007176	A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.;A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell).	GCT of bone;Giant Cell Tumor of Bone;Giant cell neoplasm of bone;Giant cell tumor of bone (morphologic abnormality);Giant cell tumor of bone NOS (morphologic abnormality);Osteoclastoma, benign;benign bone giant cell tumor;bone giant cell tumor;giant cell neoplasm of bone;giant cell tumor of bone;giant cell tumor of bone (morphologic abnormality);giant cell tumor of bone NOS (morphologic abnormality);giant cell tumor of the bone;giant cell tumor, benign
Bone inflammation disease	MONDO_0002614	Inflammation of the bone.	bone inflammatory disease;inflammatory disorder of bone;osteitis
Bone marrow cancer	MONDO_0021138	Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003	bone marrow cancer;cancer of bone marrow;malignant bone marrow neoplasm;malignant bone marrow tumor;malignant neoplasm of bone marrow
Bone marrow disease	MONDO_0003225	Any disease of the bone marrow.	bone marrow disease;bone marrow disease or disorder;bone marrow disorder;disease of bone marrow;disease or disorder of bone marrow;disorder of bone marrow
Bone marrow neoplasm	MONDO_0005374	Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).	bone marrow neoplasm;bone marrow neoplasm (disease);bone marrow tumor;malignant bone marrow tumor;malignant neoplasm of bone marrow;neoplasm of bone marrow;tumor of bone marrow
Bone mineral content measurement	EFO_0007621	quantification of the form or content of one or more of the mineral components of bone	BMC measurement
Bone neoplasm	EFO_0003820	A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.;Tumors or cancer located in bone tissue or specific BONES.	BONE NEOPL;Bone Neoplasms;NEOPL BONE;Neoplasm, Bone;Neoplasms, Bone;bone neoplasm;bone neoplasms;bone tissue neoplasm;bone tissue tumor;bone tumor;bone tumors;neoplasm of bone;neoplasm of bone tissue;neoplasm of the bone;osseous neoplasm;osseous tumor;tumor of bone;tumor of bone tissue;tumor of the bone
Bone quantitative ultrasound measurement	EFO_0004514	A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned.	bone quantitative ultrasound;broadband ultrasound attenuation
Bone remodeling disease	MONDO_0000833	A bone disease that results_in formation or resorption abnormalities located_in bone.	N/A
Bone resorption disease	MONDO_0000837	Bone loss due to osteoclastic activity.	N/A
Bone sarcoma	MONDO_0021054	A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.	bone sarcoma;osseous sarcoma;sarcoma of bone;sarcoma of the bone;skeletal sarcoma
Borderline exocrine pancreatic neoplasm	EFO_1000133	A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms.	N/A
Borjeson-forssman-lehmann syndrome	Orphanet_127	Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.	BFLS;Intellectual disability-epilepsy-endocrine disorders syndrome
Borna disease	EFO_0007178	A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.;An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.	Borna Disease;Enzootic encephalomyelitis;borna disease;enzootic encephalomyelitis
Borrelia infectious disease	EFO_1000842	Infections with bacteria of the genus BORRELIA.;Infections with bacteria of the genus borrelia.	Borrelia Infections;Borrelia caused disease or disorder;Borrelia disease or disorder;Borrelia infectious disease;Borreliosis (disorder);Borreliosis, NOS;borreliosis
Boutonneuse fever	EFO_0007179	A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.	African tick typhus (disorder);Boutonneuse Fever;Rickettsia conorii infectious disease;Rickettsia conorii spotted fever;South African tick-bite fever (disorder);african tick typhus;kenya tick typhus;marseilles fever
Brachydactyly (disease)	MONDO_0021004	A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.	N/A
Brachydactyly	Orphanet_294937	N/A	non-syndromic brachydactyly;nonsyndromic brachydactyly
Brain aneurysm	EFO_0003870	A congenital or acquired aneurysm within the cranium.;Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841);Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation.	Aneurysm, Anterior Cerebral Artery;Aneurysm, Anterior Communicating Artery;Aneurysm, Basilar Artery;Aneurysm, Berry;Aneurysm, Brain;Aneurysm, Cerebral;Aneurysm, Giant Intracranial;Aneurysm, Intracranial;Aneurysm, Intracranial Mycotic;Aneurysm, Middle Cerebral Artery;Aneurysm, Posterior Cerebral Artery;Aneurysm, Posterior Communicating Artery;Aneurysms, Basilar Artery;Aneurysms, Berry;Aneurysms, Brain;Aneurysms, Cerebral;Aneurysms, Giant Intracranial;Aneurysms, Intracranial;Aneurysms, Intracranial Mycotic;Anterior Cerebral Artery Aneurysm;Anterior Communicating Artery Aneurysm;Artery Aneurysm, Basilar;Artery Aneurysms, Basilar;Basilar Artery Aneurysm;Basilar Artery Aneurysms;Berry Aneurysm;Berry Aneurysms;Brain Aneurysms;Cerebral Aneurysm;Cerebral Aneurysms;Giant Intracranial Aneurysm;Giant Intracranial Aneurysms;Intracranial Aneurysm;Intracranial Aneurysm, Giant;Intracranial Aneurysms;Intracranial Aneurysms, Giant;Intracranial Mycotic Aneurysm;Intracranial Mycotic Aneurysms;Middle Cerebral Artery Aneurysm;Mycotic Aneurysm, Intracranial;Mycotic Aneurysms, Intracranial;Posterior Cerebral Artery Aneurysm;Posterior Communicating Artery Aneurysm;brain aneurysm
Brain cancer	MONDO_0001657	A primary or metastatic malignant neoplasm affecting the brain.	brain cancer;brain neoplasms, malignant;cancer of brain;cancer of the brain;malignant brain neoplasm;malignant brain tumor;malignant brain tumour;malignant neoplasm of brain;malignant neoplasm of the brain;malignant tumor of brain;malignant tumor of the brain;neoplasm of brain;primary malignant neoplasm of brain
Brain disease	EFO_0005774	A disease affecting the brain or part of the brain.	brain disease;brain disease or disorder;disease of brain;disease or disorder of brain;disorder of brain
Brain edema	EFO_1000845	Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6);Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)	Brain Edema;brain edema;intracranial swelling;wet brain
Brain glioblastoma	EFO_0006545	A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.	brain glioblastoma;brain glioblastoma (disease);brain glioblastoma multiforme;brain glioblastoma multiforme (disease);glioblastoma (disease) of brain;glioblastoma multiforme of brain;glioblastoma multiforme of the brain;grade IV astrocytic neoplasm of brain;grade IV astrocytic neoplasm of the brain;grade IV astrocytic tumor of brain;grade IV astrocytic tumor of the brain;grade IV brain astrocytic neoplasm;grade IV brain astrocytic tumor
Brain glioma	MONDO_0005499	A malignant glioma that involves the brain.	brain malignant glioma;lower grade glioma;malignant glioma of brain
Brain hypoxia-ischemia	EFO_1000846	A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.;A reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions.	Hypoxia-Ischemia, Brain;brain hypoxia - ischemia
Brain infarction	EFO_0004277	Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.;Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.	ANTERIOR CEREBRAL CIRC INFARCT;ANTERIOR CIRC BRAIN INFARCT;ANTERIOR CIRC INFARCT BRAIN;Anterior Cerebral Circulation Infarction;Anterior Circulation Brain Infarction;Anterior Circulation Infarction, Brain;BRAIN INFARCT;BRAIN INFARCT ANTERIOR CIRC;BRAIN INFARCT POSTERIOR CIRC;BRAIN INFARCT VENOUS;Brain Infarction;Brain Infarction, Anterior Circulation;Brain Infarction, Posterior Circulation;Brain Infarction, Venous;Brain Infarctions;Brain Infarctions, Venous;Brain Venous Infarction;Brain Venous Infarctions;INFARCT ANTERIOR CEREBRAL CIRC;INFARCT ANTERIOR CIRC BRAIN;INFARCT BRAIN ANTERIOR CIRC;INFARCT BRAIN POSTERIOR CIRC;INFARCT LACUNAR;INFARCT POSTERIOR CIRC BRAIN;Infarction, Anterior Cerebral Circulation;Infarction, Anterior Circulation, Brain;Infarction, Brain;Infarction, Brain Venous;Infarction, Brain, Anterior Circulation;Infarction, Brain, Posterior Circulation;Infarction, Lacunar;Infarction, Posterior Circulation, Brain;Infarction, Venous Brain;Infarctions, Brain;Infarctions, Brain Venous;Infarctions, Lacunar;Infarctions, Venous Brain;Lacunar Infarction;Lacunar Infarctions;POSTERIOR CIRC BRAIN INFARCT;POSTERIOR CIRC INFARCT BRAIN;Posterior Circulation Brain Infarction;Posterior Circulation Infarction, Brain;VENOUS INFARCT BRAIN;Venous Brain Infarction;Venous Brain Infarctions;Venous Infarction, Brain;Venous Infarctions, Brain;brain infarction
Brain inflammatory disease	MONDO_0015144	An inflammatory disease involving a pathogenic inflammatory response in the brain.	brain inflammation;inflammation of brain
Brain injury	MONDO_0043510	Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.	brain injury;injury of brain
Brain ischemia	MONDO_0005299	Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.	brain ischemia;brain ischemic disease;cerebrovascular ischemia;ischaemic encephalopathy;ischemia cerebrovascular;ischemic disease of brain;ischemic encephalopathy
Brain measurement	EFO_0004464	N/A	N/A
Brain neoplasm	EFO_0003833	A neoplasm (disease) that involves the brain.;Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.	Brain Neoplasms;Brain Tumor;Brain Tumor, Recurrent;Brain Tumors;Brain Tumors, Recurrent;INTRACRANIAL NEOPL;Intracranial Neoplasm;Intracranial Neoplasms;NEOPL BRAIN;NEOPL INTRACRANIAL;Neoplasm, Brain;Neoplasm, Intracranial;Neoplasms, Brain;Neoplasms, Intracranial;PRIMARY BRAIN NEOPL;Recurrent Brain Tumor;Recurrent Brain Tumors;Tumor, Brain;Tumors, Brain;brain neoplasm;brain neoplasm (disease);brain neoplasms;brain tumor;neoplasm of brain;neoplasm of the brain;tumor of brain;tumor of the Brain
Brainstem cancer	MONDO_0002912	A primary or metastatic malignant neoplasm that affects the brain stem.	brainstem cancer;cancer of brainstem;malignant brain stem neoplasm;malignant brain stem tumor;malignant brainstem neoplasm;malignant brainstem tumor;malignant neoplasm of brain stem;malignant neoplasm of brainstem;malignant neoplasm of the brain stem;malignant neoplasm of the brainstem;malignant tumor of brain stem;malignant tumor of brainstem;malignant tumor of the brain stem;malignant tumor of the brainstem;neoplasm of adult brain stem;neoplasm of brain stem;primary brain stem neoplasm;primary brain stem tumor;tumor of adult brainstem;tumor of the brainstem
Brain stem glioma	EFO_1000142	A neuroglial tumor that arises from the brain stem.	brain stem glioma;brain stem neuroglial neoplasm;brain stem neuroglial tumor;brainstem glioma;brainstem malignant glioma;brainstem neuroglial neoplasm;brainstem neuroglial tumor;diffuse brainstem glioma;glioma of brain stem;glioma of brainstem;glioma of the brain stem;glioma of the brainstem;malignant glioma of brainstem
Brain stem hemorrhage, traumatic	EFO_1001276	Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA.	N/A
Brain stem neoplasm	EFO_1001767	Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA.	Brain Stem Neoplasms;neoplasm of brain stem
Brainstem neoplasm	MONDO_0021228	A neoplasm (disease) that involves the brainstem.	Brain stem neoplasm;brain stem tumor;brainstem neoplasm (disease);brainstem tumor;neoplasm of brain stem;neoplasm of brainstem;neoplasm of the brain stem;neoplasm of the brainstem;tumor of brain stem;tumor of brainstem;tumor of the brain stem;tumor of the brainstem
Brain volume measurement	EFO_0006930	quantification of the volume of the brain or of a part of the brain	N/A
Breast adenocarcinoma	EFO_0000304	A carcinoma that arises from glandular epithelial cells of the breast;The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. 	adenocarcinoma of breast;adenocarcinoma of the breast;breast adenocarcinoma;mammary adenocarcinoma
Breast cancer	MONDO_0007254	A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.	breast cancer;cancer of breast;malignant breast neoplasm;malignant breast tumor;malignant neoplasm of breast;malignant neoplasm of the breast;malignant tumor of breast;malignant tumor of the breast;mammary cancer
Breast carcinoma by gene expression profile	EFO_1000143	A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.;https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C53553&ns=NCI_Thesaurus	breast carcinoma by gene expression profile
Breast carcinoma	EFO_0000305	A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit.  It is the most common malignant tumor in females.  Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular).  Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route.  The most common site of lymph node involvement is the axilla.;A carcinoma that arises from epithelial cells of the breast	CA - Carcinoma of breast;Carcinoma of breast (disorder);Carcinoma of breast NOS;Carcinoma of breast NOS (disorder);Carcinoma of the Breast;Carcinoma, Human Mammary;Carcinomas, Human Mammary;Human Mammary Carcinoma;Human Mammary Carcinomas;Mammary Carcinoma, Human;Mammary Carcinomas, Human;Mammary carcinoma;breast carcinoma;carcinoma OF breast;carcinoma of breast;carcinoma of the breast;mammary carcinoma
Breast carcinoma in situ	MONDO_0004658	A in situ carcinoma that involves the breast.	breast cancer in situ;breast cancer stage 0;breast carcinoma in situ;breast in situ carcinoma;carcinoma in situ of breast;carcinoma in situ of the breast;in situ breast cancer;non-infiltrating breast carcinoma;non-infiltrating carcinoma of breast;non-infiltrating carcinoma of the breast;non-invasive breast carcinoma;non-invasive carcinoma of breast;non-invasive carcinoma of the breast;stage 0 breast cancer;stage 0 breast cancer aJCC v6;stage 0 breast cancer aJCC v6 and v7;stage 0 breast cancer aJCC v7;stage 0 breast carcinoma;stage 0 breast carcinoma in situ;stage 0 carcinoma of breast;stage 0 carcinoma of the breast
Breast disease	EFO_0009483	A disease involving the breast.	breast disease;breast disease or disorder;breast diseases;breast disorder;disease of breast;disease or disorder of breast;disorder of breast
Breast ductal adenocarcinoma	EFO_0006318	A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.NCI-GLOSS Definition: The most common type of breast cancer. It begins in the cells that line the milk ducts in the breast. 	Ductal Carcinoma of Breast;Ductal Carcinoma of the Breast;Infiltrating ductal carcinoma of breast;ductal breast carcinoma
Breast fibroepithelial neoplasm	MONDO_0021046	A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.	breast fibroepithelial neoplasm;breast fibroepithelial tumor
Breast intraductal proliferative lesion	MONDO_0004007	A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.	DIN;ductal intraepithelial neoplasia;intraductal proliferative lesion;intraductal proliferative lesion of the breast;mammary intraepithelial neoplasia, ductal type
Breast neoplasm	EFO_0003869	A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.;Abnormal growth located in the breast or mammory gland.	BREAST NEOPL;Breast Neoplasms;Breast Tumor;Breast Tumors;Human Mammary Neoplasm;Human Mammary Neoplasms;Mammary Neoplasm, Human;Mammary Neoplasms, Human;NEOPL BREAST;Neoplasm, Breast;Neoplasm, Human Mammary;Neoplasms, Breast;Neoplasms, Human Mammary;Tumor, Breast;Tumors, Breast;breast neoplasm;breast neoplasm (disease);breast tumor;neoplasm of breast;neoplasm of the breast;neoplasm, breast;tumor of breast;tumor of the breast
Breast phyllodes tumor	MONDO_0021047	A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.	breast cystosarcoma phyllodes;breast phyllodes neoplasm;breast phyllodes tumor;cystosarcoma phyllodes of breast;cystosarcoma phyllodes of the breast;cystosarcoma phylloides - breast;cystosarcoma phylloides of the breast;phyllodes breast neoplasm;phyllodes breast tumor;phyllodes neoplasm of breast;phyllodes neoplasm of the breast;phyllodes tumor of breast;phyllodes tumor of the breast
Breast size	EFO_0004884	Is a quantification of some aspect of breast size	mammary gland size
Breast tumor luminal	EFO_0000306	A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.;Luminal A and B subtypes are both estrogen-receptor-positive (ER+) and low-grade, with luminal A tumors growing very slowly and luminal B tumors growing more quickly. Luminal A tumors have the best prognosis.	Luminal A Breast Carcinoma;Luminal B Breast Carcinoma;breast tumor luminal;breast tumor luminal A or B;luminal breast cancer
Bronchial disease	EFO_1002018	A disease involving the bronchus.;a respiratory system disease that has its manifestation in the bronchus	bronchial disease;bronchial disorder;bronchospasm;bronchus disease;bronchus disease or disorder;disease of bronchus;disease or disorder of bronchus;disorder of bronchus
Bronchial epithelial cell derived cell line	EFO_0005728	A bronchial epithelial cell derived cell line is defined as something that derives from an airway epithelial cell	small airway epithelial cell derived cell line
Bronchial neoplasm	EFO_1000849	Tumors or cancer of the BRONCHI.	Bronchial Neoplasms;bronchus neoplasm;neoplasm of bronchus (disorder)
Bronchiolitis (disease)	MONDO_0002465	Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.	bronchiolitis;wheezy bronchitis
Bronchiolitis obliterans	EFO_0007183	A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.;Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.	BOOP;Bronchiolitis Obliterans;Bronchiolitis exudativa;Bronchiolitis fibrosa obliterans (disorder);Obliterative bronchiolitis;bo;bronchiolitis fibrosa obliterans;bronchiolitis obliterans;bronchiolitis obliterans with obstructive pulmonary disease;constrictive bronchiolitis;obliterative bronchiolitis;organized pneumonia
Bronchopneumonia	EFO_0007184	A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.;Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.	Bronchopneumonia;Chest infection - unspecified bronchopneumonia;bronchial pneumonia;bronchopneumonia;chest infection - bronchopneumonia;chest infection - unspecified bronchopneumonia;lobular pneumonia
Bronchopulmonary dysplasia	Orphanet_70589	Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.;Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.	BPD;bronchopulmonary dysplasia
Brucellosis	EFO_0007185	A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.;Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart ( endocarditis ), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.	Brucellosis;Maltese fever;brucellosis;undulant fever
Bulimia nervosa	EFO_0005204	An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING.;Recurrent episodes of over-eating.	bulimia;bulimia nervosa;hyperorexia nervosa
Bunyaviridae infectious disease	EFO_0007188	A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors.;Virus diseases caused by the bunyaviridae.	Bunyaviridae Infections;Bunyaviridae caused disease or disorder;Bunyaviridae disease or disorder;Bunyaviridae infectious disease;disease due to Bunyaviridae
Burkitts lymphoma	EFO_0000309	A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.;Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.	African Lymphoma;Burkitt Cell Leukemia;Burkitt Leukemia;Burkitt Lymphoma;Burkitt Tumor;Burkitt lymphoma;Burkitt lymphoma/leukaemia;Burkitt's Leukemia;Burkitt's Lymphoma;Burkitt's lymphoma;Burkitt's lymphoma - disorder;Burkitt's lymphoma NOS (disorder);Burkitt's lymphoma of unspecified site (disorder);Burkitt's tumor;Burkitt's tumor NOS (morphologic abnormality);Burkitt's tumor or lymphoma;Burkitt's tumors (morphologic abnormality);Burkitt's tumour [obs];Burkitts Leukemia;Burkitts Tumor;Cell Leukemia, Burkitt;L3 Lymphocytic Leukemia;L3 Lymphocytic Leukemias;Leukemia, Burkitt;Leukemia, Burkitt Cell;Leukemia, Burkitt's;Leukemia, L3 Lymphocytic;Leukemia, Lymphoblastic, Burkitt-Type;Leukemia, Lymphocytic, L3;Leukemias, L3 Lymphocytic;Lymphocytic Leukemia, L3;Lymphocytic Leukemias, L3;Lymphoma, African;Lymphoma, Burkitt;Lymphoma, Burkitt's;Tumor, Burkitt;Tumor, Burkitt's;malignant lymphoma, Burkitt's type;small Non-Cleaved cell Lymphoma, Burkitt's type;small non-cleaved cell lymphoma;small non-cleaved cell lymphoma, Burkitt's type
Burn	EFO_0009516	A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. [ NCI ]	N/A
C2c12	EFO_0001098	N/A	N/A
Caffeine metabolite measurement	EFO_0007872	quantification of caffeine (1,3,7 trimethylxanthine) or any metabolite derived from caffeine, including paraxanthine (1,7 dimethylxanthine), theophylline (1,3 dimethylxanthine), and theobromine (3,7 dimethylxanthine) in a sample	N/A
Calcium measurement	EFO_0004838	Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation.	calcium levels
Calcium metabolic disease	EFO_0005769	Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.;Disorders of calcium metabolism occur when the body has too little or too much calcium. The serum level of calcium is closely regulated within a fairly limited range in the human body. In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor.[1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels.	Calcium Metabolism Disorders;calcium metabolic disease;calcium metabolic disorder;calcium metabolism disease;calcium metabolism disorder;disorder of calcium metabolism
Callous-unemotional behaviour	EFO_0005322	bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness	N/A
Canavan disease	Orphanet_141	Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.	ACY2 deficiency;Aminoacylase 2 deficiency;Aspartoacylase deficiency;Spongy degeneration of the brain
Cancer biomarker measurement	EFO_0005127	cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient	N/A
Cancer	EFO_0000311	A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease.;A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.	CA;Malignant Neoplasm;cancer;cell type cancer;malignancy;malignant Growth;malignant neoplasia;malignant neoplasm;malignant neoplasm (disease);malignant neoplastic disease;malignant tumor;malignant tumour;neoplasm (disease), malignant;neoplasm, malignant;organ system cancer;primary cancer
Cannabis dependence measurement	EFO_0008457	Quantification of the degree to which an individual is dependent on cannabis, for example based on the number of DSM-IV criteria met for cannabis dependence.	N/A
Canthal anomaly	Orphanet_98572	N/A	N/A
Capillary hemangioma	MONDO_0002407	A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.	capillary angioma;capillary hemangioma;capillary hemangioma (morphologic abnormality);cellular hemangioma of infancy;cellular hemangioma of infancy (strawberry nevus);congenital vascular hamartoma;congenital vascular naevus;infantile hemangioma;juvenile hemangioma;strawberry haemangioma;strawberry nevus;strawberry nevus of skin
Capillary malformation	MONDO_0016231	N/A	N/A
Carbohydrate metabolism disease	MONDO_0037792	A disease that has its basis in the disruption of carbohydrate metabolic process.	carbohydrate metabolic process disease;disorder of carbohydrate metabolic process;disorder of carbohydrate metabolism
Carcinoid tumor	EFO_0004243	A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.;A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Some carcinoid tumours are a phenotype associated with mutations in the SDHD Gene (evidence OMIM record http://www.omim.org/entry/602690)	NET G1;argentaffinoma;carcinoid;carcinoid tumor;carcinoid tumor (disease);carcinoid tumors, intestinal;ileal carcinoid;ileal carcinoids;neuroendocrine neoplasm G1;neuroendocrine tumor G1
Carcinoma	EFO_0000313	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.;A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases.	Other carcinoma;carcinoma;carcinoma, malignant;epithelial carcinoma;epithelioma;epithelioma malignant;malignant epithelial neoplasm;malignant epithelial tumor;malignant epithelioma
Carcinoma of duodenum	MONDO_0021335	A carcinoma that involves the duodenum.	cancer of duodenum;cancer of the duodenum;carcinoma of duodenum;carcinoma of the duodenum;duodenal cancer;duodenal carcinoma;duodenum carcinoma
Carcinoma of esophagus	MONDO_0019086	Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC) (see these terms).	carcinoma of esophagus;carcinoma of oesophagus;carcinoma of the esophagus;esophageal carcinoma;esophagus carcinoma
Carcinoma of gallbladder and extrahepatic biliary tract	MONDO_0018918	Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.	carcinoma of gallbladder and EBT
Carcinoma of liver and intrahepatic biliary tract	MONDO_0018531	A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.	cancer of liver;cancer of liver and intrahepatic biliary tract;cancer of the liver;cancer of the liver and intrahepatic biliary tract;carcinoma of liver;carcinoma of liver and IBT;hepatic cancer;liver and intrahepatic bile duct cancer;liver and intrahepatic bile duct carcinoma;liver and intrahepatic biliary tract cancer;liver and intrahepatic biliary tract carcinoma;liver cancer;liver carcinoma;liver/hepatobiliary cancer;primary liver carcinoma
Carcinoma of pharynx	MONDO_0021345	A carcinoma that involves the pharynx.	cancer of the pharynx;carcinoma of pharynx;carcinoma of the pharynx;pharyngeal carcinoma;pharyngeal throat cancer;pharynx carcinoma
Carcinosarcoma	MONDO_0002928	A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.	MMMT;carcinosarcoma;carcinosarcoma, malignant;malignant mixed Mullerian tumor;malignant mixed mesodermal (mullerian) tumor;mesodermal mixed tumor;mesodermal mixed tumor (morphologic abnormality);mixed mesodermal (mullerian) tumor;mullerian mixed tumor;mullerian mixed tumor (morphologic abnormality)
Cardiac amyloidosis	EFO_1001984	Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]	Amyloid heart disease;Amyloid heart muscle disease;Amyloidosis of heart;Senile cardiac amyloidosis;amyloid cardiomyopathy
Cardia cancer	MONDO_0001063	A malignant neoplasm involving the cardia of stomach.	Ca cardia - stomach;cancer of cardia of stomach;cardia of stomach cancer;malignant cardia of stomach neoplasm;malignant neoplasm of cardia of stomach
Cardiac arrest	EFO_0009492	Cessation of breathing and/or cardiac function.	cardiopulmonary arrest;circulatory arrest
Cardiac arrhythmia	EFO_0004269	Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.	arrhythmia;arrhythmias, cardiac;arrythmia;cardiac arrhythmias
Cardiac conduction defect	EFO_1001497	heart rhythm disturbance where the heart’selectrical impulses are conducted very slowly.	SCD;cardiac conduction defect, nonspecific;nonspecific cardiac conduction defect;sudden cardiac death
Cardiac hypertrophy	EFO_0002503	an increase in size of the cardiac tissue, not due to increased cell number	cardiomegaly;enlarged heart;heart hypertrophy;myocardial hypertrophy
Cardiac myxoma	HP_0011672	A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber.	N/A
Cardiac rhythm disease	MONDO_0007263	Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.	arrhythmia
Cardiac troponin t measurement	EFO_0005043	Is a quantification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction.	cardiac troponin T level;cardiac troponin T levels;hs-cTnT levels
Cardiac ventricle disease	MONDO_0045001	A disease or disorder that involves the cardiac ventricle.	cardiac ventricle disease;cardiac ventricle disease or disorder;disease of cardiac ventricle;disease or disorder of cardiac ventricle;disorder of cardiac ventricle
Cardiomyocyte hypertrophy	HP_0031319	An abnormal increase in the volume of cardiac myocytes.	Myocyte cellular hypertrophy
Cardiomyopathy	EFO_0000318	A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.;A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).	CARDIOMYOPATH IN OTH DIS;CARDIOMYOPATHIES SECOND;Cardiomyopathies;Cardiomyopathies, Primary;Cardiomyopathies, Secondary;Cardiomyopathy (disorder);Cardiomyopathy NOS;Cardiomyopathy NOS (disorder);Cardiomyopathy in other diseases classified elsewhere;Cardiomyopathy, NOS;Cardiomyopathy, Primary;Cardiomyopathy, Secondary;Other primary cardiomyopathies;Other primary cardiomyopathies (disorder);Other primary cardiomyopathy NOS;Other primary cardiomyopathy NOS (disorder);PRIM CARDIOMYOPATHY NEC;Primary Cardiomyopathies;Primary Cardiomyopathy;Secondary Cardiomyopathies;Secondary Cardiomyopathy;[X]Cardiomyopathy in other diseases classified elsewhere;[X]Cardiomyopathy in other diseases classified elsewhere (disorder);cardiomyopathy;extrinsic cardiomyopathy
Cardio-renal syndrome	MONDO_0044079	N/A	N/A
Cardiovascular cancer	MONDO_0002100	A primary or metastatic malignant neoplasm involving the cardiovascular system.	cancer of cardiovascular system;cardiovascular system cancer;cardiovascular tumors;malignant cardiovascular neoplasm;malignant cardiovascular system neoplasm;malignant neoplasm of cardiovascular system
Cardiovascular disease	EFO_0000319	A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.;A disease involving the cardiovascular system.;A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels).  Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension.  Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003;A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.;Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.	ASCVD;CARDIOVASC DIS;CIRCULATORY DISEASE NOS;CVD;CVD, NOS;CVS disease;Cardiovascular Disease (CVD);Cardiovascular Diseases;Cardiovascular Disorder;Cardiovascular Disorders;Cardiovascular disease, NOS;Cardiovascular disease, unspecified;Cardiovascular disorder, NOS;Cardiovascular system disease;Certain sequelae of myocardial infarction, not elsewhere classified;Circulatory system disease NOS;Circulatory system disease NOS (disorder);DISEASES OF THE CIRCULATORY SYSTEM;Disease affecting entire cardiovascular system;Disease affecting entire cardiovascular system (disorder);Disease of cardiovascular system;Disease of cardiovascular system (disorder);Disease of cardiovascular system, NOS;Disease, Cardiovascular;Diseases, Cardiovascular;Disorder of cardiovascular system;Disorder of cardiovascular system (disorder);Disorder of circulatory system;Disorder of circulatory system, NOS;Disorder of the circulatory system;ILL-DEFINED HRT DIS NEC;Ill-defined descriptions and complications of heart disease;OTHER SEQUELAE OF MI NEC;Other diseases of endocardium;Other diseases of endocardium (disorder);Other diseases of pericardium;Other diseases of pericardium (disorder);Other disorders of papillary muscle;Other forms of heart disease;Other forms of heart disease (disorder);Other heart disease;Other heart disease (disorder);Other heart disease NOS;Other heart disease NOS (disorder);Other ill-defined heart disease;Other ill-defined heart disease (disorder);Other ill-defined heart disease NOS;Other ill-defined heart disease NOS (disorder);Other ill-defined heart diseases;Other pericardial disease NOS;Other pericardial disease NOS (disorder);Other sequelae of myocardial infarction, not elsewhere classified;Other specified diseases of pericardium;Other specified pericardial disease NOS;Other specified pericardial disease NOS (disorder);PAPILLARY MUSCLE DIS NEC;PERICARDIAL DISEASE NEC;Unspecified circulatory system disorder;[X]Cardiovascular disease, unspecified;[X]Cardiovascular disease, unspecified (disorder);[X]Other forms of heart disease;[X]Other forms of heart disease (disorder);[X]Other ill-defined heart diseases;[X]Other ill-defined heart diseases (disorder);[X]Other specified diseases of pericardium;[X]Other specified diseases of pericardium (disorder);cardiovascular disease;cardiovascular disease (CVD);cardiovascular disorder;cardiovascular system disease;cardiovascular system disease or disorder;circulatory system disease;disease of cardiovascular system;disease of subdivision of hemolymphoid system;disease or disorder of cardiovascular system;disorder of cardiovascular system
Cardiovascular neoplasm	MONDO_0024757	A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.	cardiovascular neoplasm;cardiovascular system neoplasm;cardiovascular system tumor;cardiovascular tumor;neoplasm of cardiovascular system;tumor of cardiovascular system
Cardiovascular organ benign neoplasm	MONDO_0000629	A benign neoplasm that involves the cardiovascular system.	cardiovascular system benign neoplasm
Carotid artery disease	EFO_0003781	A disease involving the carotid artery segment.;Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology.	ARTERIAL DIS CAROTID;ARTERIAL DIS COMMON CAROTID;ARTERIAL DIS EXTERNAL CAROTID;ARTERIAL DIS INTERNAL CAROTID;Arterial Disease, Carotid;Arterial Diseases, Carotid;Arterial Diseases, Common Carotid;Arterial Diseases, External Carotid;Arterial Diseases, Internal Carotid;Artery Disease, Carotid;Artery Diseases, Carotid;Artery Disorder, Carotid;Artery Disorders, Carotid;CAROTID ARTERY DIS;COMMON CAROTID ARTERY DIS;Carotid Arterial Disease;Carotid Arterial Diseases;Carotid Artery Diseases;Carotid Artery Disorder;Carotid Artery Disorders;Common Carotid Artery Diseases;Disorders, Carotid Artery;EXTERNAL CAROTID ARTERY DIS;External Carotid Artery Diseases;INTERNAL CAROTID ARTERY DIS;Internal Carotid Artery Diseases;carotid artery disease;carotid artery disorder;carotid artery segment disease;carotid artery segment disease or disorder;disease of carotid artery segment;disease or disorder of carotid artery segment;disorder of carotid artery;disorder of carotid artery (disorder);disorder of carotid artery segment
Carotid artery intima media thickness	EFO_0007117	quantification of the thickness of tunica intima and tunica media, the innermost two layers of the wall of the carotid artery, usually by carotid ultrasound	N/A
Carotid artery thrombosis	EFO_1000853	Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX.;Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.	Carotid Artery Thrombosis;Carotid artery thrombosis;Carotid artery thrombosis (disorder);carotid artery thrombosis
Carotid atherosclerosis	EFO_0009783	A thickening and loss of elasticity of the walls of carotid arteries that occur with formation of atherosclerotic plaques.	ATHEROSCLEROTIC DIS CAROTID;Atherosclerotic Disease, Carotid;Atherosclerotic Diseases, Carotid;CAROTID ATHEROSCLEROTIC DIS;Carotid Atheroscleroses;Carotid Atherosclerotic Disease;Carotid Atherosclerotic Diseases;carotid atherosclerotic disease
Carotid plaque build	EFO_0006501	quantification of the build-up of atheroscleortic plaque, expressed as the sum of plaque areas over the segments in common and internal carotid arteries and bifurcation	CPB;carotid plaque burden
Cartilage disease	EFO_0005802	Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE).	Cartilage Diseases;Cartilage disorder;Chondropathy;Chondropathy (disorder);cartilage disease;cartilage disorder;cartilage tissue disease;cartilage tissue disease or disorder;disease of cartilage tissue;disease or disorder of cartilage tissue;disorder of cartilage tissue
Cartilage-hair hypoplasia	Orphanet_175	Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.	Autosomal recessive metaphyseal chondrodysplasia;Metaphyseal chondrodysplasia, McKusick type
Cartilage thickness measurement	EFO_0007873	Quantification of the thickness of cartilage in a joint, most commonly the hip joint, for example using minimal joint space width (mJSW) as a proxy measure. Cartilage thickness is an indicator of joint health, which makes it a suitable biomarker for osteoarthritis.	N/A
Cataract associated with a metabolic disease	Orphanet_98644	N/A	N/A
Cataract	EFO_0001059	Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness.  Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.);Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.);Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)	CATARACT NEC;CATARACT W RADIATION;CATARACT W SYNDROME NEC;Cat. - Cataract;Cataract (M-54510);Cataract (disorder);Cataract (morphologic abnormality);Cataract NOS;Cataract NOS (disorder);Cataract associated with other disorders;Cataract associated with other syndromes;Cataract associated with other syndromes (disorder);Cataract associated with radiation and other physical influences;Cataract form;Cataract form (observable entity);Cataract, Membranous;Cataracts;Cataracts, Membranous;Lens Opacities;Lens Opacity;Lenticular opacity;Membranous Cataract;Membranous Cataracts;Opacities, Lens;Opacity, Lens;Other cataract;Other cataract (disorder);Other cataract NOS;Other cataract NOS (disorder);Pseudoaphakia;Pseudoaphakias;Unspecified cataract;cataract;cataract (disease);cataracts;opacity of the lens
Cat-eye syndrome	Orphanet_195	Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.	CES
Cathepsin b measurement	EFO_0008072	quantification of the amount of cathepsin B in a sample	N/A
Cattle disease	MONDO_0024913	Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.	cattle disease
Ccl11 measurement	EFO_0005188	A quantification of C-C motif chemokine 11, also known as Eotaxin, Eosinophil chemotactic protein and Small-inducible cytokine A11. In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3	N/A
Ccl2 measurement	EFO_0004749	Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis.CCL2 is reported to be associated with Alzheimer's disease e.g. http://www.ncbi.nlm.nih.gov/pubmed/22303443 and http://europepmc.org/abstract/MED/25340798	chemokine CCL2 level;chemokine CCL2 levels;monocyte chemoattractant protein-1 measurement;monocyte chemotactic protein-1 level;monocyte chemotactic protein-1 levels;monocyte chemotactic protein-1 measurement
Ccl5 measurement	EFO_0005117	Is the quantification of Chemokine (C-C motif) ligand 5. CCL5 is a Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second processed form RANTES(4-68) exhibits reduced chemotactic and HIV-suppressive activity compared with RANTES(1-68) and RANTES(3-68) and is generated by an unidentified enzyme associated with monocytes and neutrophils (PubMed:16791620, PubMed:1380064, PubMed:8525373, PubMed:9516414, PubMed:15923218). May also be an agonist of the G protein-coupled receptor GPR75, stimulating inositol trisphosphate production and calcium mobilization through its activation. Together with GPR75, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. By activating GPR75 may also play a role in insulin secretion by islet cells (PubMed:23979485).	RANTES;Regulated on Activation, Normal T cell Expressed and Secreted
C-c motif chemokine 18 measurement	EFO_0008046	quantification of the amount of C-C motif chemokine 18 in a sample	N/A
C-c motif chemokine 19 measurement	EFO_0008047	quantification of the amount of C-C motif chemokine 19 in a sample	N/A
C-c motif chemokine 3-like 1 measurement	EFO_0008052	quantification of the amount of C-C motif chemokine 3-like 1 in a sample	N/A
C-c motif chemokine 3 measurement	EFO_0008051	quantification of the amount of C-C motif chemokine 3 in a sample	N/A
C-c motif chemokine 7 measurement	EFO_0008054	quantification of the amount of C-C motif chemokine 7 in a sample	N/A
Cd8-positive t-lymphocytes	EFO_0004219	A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes.	CD8-Positive Lymphocytes;Suppressor T-Cells, CD8-Positive;Suppressor T-Lymphocytes, CD8-Positive;T8 Lymphocytes;T8 cells
Celiac disease	EFO_0001060	A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.;A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.;A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.;A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.;An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.	CD - Celiac disease;CD - Coeliac disease;CELIAC DIS;CS - Celiac sprue;CS - Coeliac sprue;Celiac Sprue;Celiac disease (disorder);Celiac disease NOS;Celiac disease NOS (disorder);Celiac rickets;Celiac rickets (disorder);Celiac syndrome;Coeliac disease;Coeliac disease NOS;Coeliac disease [Ambiguous];Coeliac rickets;Coeliac sprue;Coeliac syndrome;Disease, Celiac;Enteropathies, Gluten;Enteropathies, Gluten-Sensitive;Enteropathy, Gluten;Enteropathy, Gluten-Sensitive;GSE - Gluten-sensitive enteropathy;Gluten Enteropathies;Gluten Sensitive Enteropathy;Gluten enteropathy;Gluten-Induced Enteropathy;Gluten-Sensitive Enteropathies;Gluten-Sensitive Enteropathy;Gluten-induced enteropathy syndrome;Gluten-responsive sprue;Idiopathic steatorrhea;Idiopathic steatorrhoea;Non Tropical Sprue;Non-tropical sprue;Nontropical Sprue;Sprue;Sprue, Celiac;Sprue, Nontropical;Steatorrhoea - idiopathic;Wheat-sensitive enteropathy;celiac disease;celiac sprue;coeliac disease;gluten-induced enteropathy;idiopathic steatorrhea;non tropical sprue
Cell proliferation disorder	MONDO_0045024	Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.	N/A
Central nervous system cancer	EFO_0000326	A malignant neoplasm involving the central nervous system;A primary or metastatic malignant neoplasm involving the brain or spinal cord.  Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.;Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH).	CNS Cancer;CNS Malignant Neoplasms;CNS Neoplasms, Malignant;CNS cancer;CNS malignant neoplasms;CNS neoplasm;CNS neoplasms, malignant;Cancer of CNS;Cancer of Central Nervous System;Cancer of the CNS;Cancer of the Central Nervous System;Central Nervous System Neoplasms, Malignant;Glial Cell Tumor;Glioma;Malignant CNS Neoplasm;Malignant CNS Neoplasms;Malignant CNS Tumor;Malignant Central Nervous System Neoplasm;Malignant Central Nervous System Tumor;Malignant Neoplasm of CNS;Malignant Neoplasm of Central Nervous System;Malignant Neoplasm of the CNS;Malignant Neoplasm of the Central Nervous System;Malignant Tumor of CNS;Malignant Tumor of Central Nervous System;Malignant Tumor of the CNS;Malignant Tumor of the Central Nervous System;cancer of CNS;cancer of central nervous system;cancer of the CNS;cancer of the central nervous system;central nervous system cancer;central nervous system neoplasms, malignant;central nervous system tumor;central nervous system tumors;malignant CNS neoplasm;malignant CNS neoplasms;malignant CNS tumor;malignant central nervous system neoplasm;malignant central nervous system tumor;malignant neoplasm of CNS;malignant neoplasm of central nervous system;malignant neoplasm of the CNS;malignant neoplasm of the central nervous system;malignant tumor of CNS;malignant tumor of central nervous system;malignant tumor of the CNS;malignant tumor of the central nervous system;neoplasm of central nervous system
Central nervous system disease	EFO_0009386	A disease involving the central nervous system.	central nervous disease;central nervous system disease;central nervous system disease or disorder;central nervous system disorder;disease of central nervous system;disease or disorder of central nervous system;disorder of central nervous system
Central nervous system hematopoietic neoplasm	MONDO_0003641	A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.	CNS hematopoietic neoplasm;CNS hematopoietic tumor;central nervous system hematopoietic and lymphoid system neoplasm;central nervous system hematopoietic neoplasm;central nervous system hematopoietic neoplasms;central nervous system hematopoietic tumor;hematopoietic and lymphoid system neoplasm of central nervous system;hematopoietic neoplasm of CNS;hematopoietic neoplasm of central nervous system;hematopoietic neoplasm of the CNS;hematopoietic neoplasm of the central nervous system;hematopoietic tumor of central nervous system;hematopoietic tumor of the central nervous system;lymphomas and hemopoietic neoplasms of CNS;lymphomas and hemopoietic neoplasms of the CNS
Central nervous system infection	EFO_1001456	An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.;Pathogenic infections of the brain, spinal cord, and meninges.	Central Nervous System Infections;central nervous system infectious disease;central nervous system infectious disorder;infectious disease of central nervous system
Central nervous system lymphoma	EFO_1000157	A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.	CNS lymphoma;PCNSL;central nervous system lymphoma;lymphoma of central nervous system;malignant lymphomas of CNS;malignant lymphomas of the CNS;microglioma;primary CNS lymphoma;primary brain lymphoma;primary central nervous system lymphoma
Central nervous system malformation	MONDO_0020022	N/A	N/A
Central nervous system neoplasm	EFO_1000158	A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.	CNS neoplasm;CNS tumor;brain/spinal cord tumor;central nervous system neoplasm;central nervous system neoplasm (disease);central nervous system tumor;neoplasm of CNS;neoplasm of central nervous system;neoplasm of the central nervous system;tumor of CNS;tumor of central nervous system;tumor of the CNS;tumor of the central nervous system
Central nervous system sarcoma	MONDO_0002217	A sarcoma that arises from the central nervous system.	CNS sarcoma;central nervous system sarcoma;sarcoma of CNS;sarcoma of central nervous system;sarcoma of the CNS;sarcoma of the central nervous system
Central nervous system vasculitis	MONDO_0003346	Vasculitis affecting the blood vessels of the brain and/or spinal cord.	central nervous system vasculitis;vasculitis of central nervous system
Cerebellar ataxia	MONDO_0000437	A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.	ataxia;ataxia syndrome;spinocerebellar Degeneration
Cerebellar ataxia with peripheral neuropathy	Orphanet_207028	N/A	N/A
Cerebellar degeneration	MONDO_0022687	Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.	Brain degeneration;cerebellar Degeneration;cerebellar degeneration;cerebellum neurodegenerative disease;neurodegenerative disease of cerebellum
Cerebellar disease	MONDO_0002427	Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.	cerebellum disease;cerebellum disease or disorder;disease of cerebellum;disease or disorder of cerebellum;disorder of cerebellum
Cerebellar neoplasm	MONDO_0002913	A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003	cerebellar cancer;cerebellar neoplasm;cerebellar tumor;cerebellum neoplasm;cerebellum neoplasm (disease);cerebellum tumor;malignant tumor of cerebellum;neoplasm of cerebellum;neoplasm of the cerebellum;tumor of cerebellum;tumor of the cerebellum
Cerebellum cancer	EFO_1000858	Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)	Cerebellar Neoplasms;cerebellar cancer;malignant tumor of Cerebellum
Cerebral amyloid angiopathy	EFO_0006790	A disorder characterized by the deposition of amyloid in the wall of the vessels in the brain.;Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.	CAA;HCHWA;cerebral amyloid angiopathy;dutch hereditary cerebral amyloid angiopathy;hereditary cerebral haemorrhage with amyloidosis - Dutch type
Cerebral amyloid deposition measurement	EFO_0007707	quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex	N/A
Cerebral arterial disease	EFO_1000859	Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY.;Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.	Cerebral Arterial Diseases;cerebral arterial disease
Cerebral arteriovenous malformation	HP_0002408	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.	Cerebral AV malformation
Cerebral atherosclerosis	EFO_1000860	Atherosclerosis of the cerebral vasculature.;Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS.	Cerebral atherosclerosis;Cerebral atherosclerosis (disorder);Intracranial Arteriosclerosis;cerebral atherosclerosis
Cerebral cavernous malformation	MONDO_0000820	A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.	CCM;cavernous angiomatous malformations;cerebral capillary malformations;familial cavernous angioma
Cerebral infarction	MONDO_0002679	An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.	CVA - cerebral infarction;brain infarction of telencephalon;cerebral infarct;cerebral infarction;cerebral ischemia;cerebral, infarction;infarction, cerebral;telencephalon brain infarction
Cerebral ischemia	HP_0002637	N/A	Brain ischemia;Cerebrovascular ischemia
Cerebral lipidosis with dementia	MONDO_0020143	N/A	cerebral lipidosis
Cerebral malaria	EFO_0006857	A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.;Individuals with cerebral malaria frequently exhibit neurological symptoms, including abnormal posturing, nystagmus, conjugate gaze palsy (failure of the eyes to turn together in the same direction), opisthotonus, seizures, or coma	cerebral malaria;malarial encephalitis
Cerebral organic aciduria	Orphanet_79158	N/A	N/A
Cerebral small vessel disease	EFO_0008493	Cerebral small vessel disease is the term currently used to pathological processes that affect the brain parenchymal circulation (arterioles, capillaries, and veins). It is a major contributor to stroke, and a leading cause of cognitive impairment and dementia.	genetic cerebral small vessel disease;small vessel cerebrovascular disease
Cerebral toxoplasmosis	EFO_0007200	A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures.;Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)	Encephalitis due to acquired toxoplasmosis;Meningoencephalitis due to acquired toxoplasmosis (disorder);Meningoencephalitis due to toxoplasmosis;Toxoplasma encephalitis;Toxoplasma encephalitis (disorder);Toxoplasmosis, Cerebral;cerebral toxoplasmosis
Cerebral ventricle cancer	EFO_0007201	A cerebrum cancer that is located_in the cerebral ventricles.;A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.	Cerebral Ventricle Neoplasms;Intraventricular tumor of brain;brain neoplasms, intraventricular;brain ventricle cancer;cancer of brain ventricle;cerebral ventricle cancer;cerebral ventricle neoplasm;intraventricular brain neoplasm;intraventricular brain neoplasms;intraventricular brain tumor;intraventricular neoplasm of brain;intraventricular neoplasm of the brain;intraventricular neoplasms;intraventricular tumor of brain;intraventricular tumor of the brain;malignant brain ventricle neoplasm;malignant neoplasm of brain ventricle
Cerebroretinal vasculopathy	Orphanet_3421	N/A	N/A
Cerebrospinal fluid biomarker measurement	EFO_0006794	A cerebrospinal fluid biomarker measurement is a quantification in cerebrospinal fluid of some molecule e.g. protein or metabolite that acts as a biomarker for some disease, eg Alzheimer's disease	N/A
Cerebrospinal fluid clusterin measurement	EFO_0007657	quantification of the amount of the clusterin in a sample of cerebrospinal fluid	CSF clusterin measurement
Cerebrovascular disorder	EFO_0003763	A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.;A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.	BRAIN VASCULAR DIS;Brain Vascular Disorder;Brain Vascular Disorders;CEREBROVASCULAR DIS;Cerebrovascular Disease;Cerebrovascular Disorders;Cerebrovascular Insufficiencies;Cerebrovascular Insufficiency;Cerebrovascular Occlusion;Cerebrovascular Occlusions;INTRACRANIAL VASCULAR DIS;Insufficiencies, Cerebrovascular;Insufficiency, Cerebrovascular;Intracranial Vascular Disease;Intracranial Vascular Diseases;Intracranial Vascular Disorder;Intracranial Vascular Disorders;Occlusion, Cerebrovascular;Occlusions, Cerebrovascular;VASCULAR DIS INTRACRANIAL;Vascular Disease, Intracranial;Vascular Diseases, Intracranial;Vascular Disorder, Brain;Vascular Disorder, Intracranial;Vascular Disorders, Brain;Vascular Disorders, Intracranial;cerebrovascular disease;cerebrovascular disorder
Cervical adenocarcinoma	EFO_0001416	An adenocarcinoma arising from the cervical epithelium.  It accounts for approximately 15% of invasive cervical carcinomas.  Increased numbers of sexual partners and human papilloma virus (HPV) infection are risk factors.  Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement.  Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.;An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.;Tumors or cancer of the UTERINE CERVIX.	Adenocarcinoma of Cervix;Adenocarcinoma of Cervix Uteri;Adenocarcinoma of Uterine Cervix;Adenocarcinoma of the Cervix;Adenocarcinoma of the Cervix Uteri;Adenocarcinoma of the Uterine Cervix;CERVICAL NEOPL;CERVIX NEOPL;Cancer of Cervix;Cancer of the Cervix;Cancer of the Uterine Cervix;Cancer, Cervix;Cancer, Uterine Cervical;Cancers, Cervix;Cancers, Uterine Cervical;Cervical Cancer, Uterine;Cervical Cancers, Uterine;Cervical Neoplasm;Cervical Neoplasm, Uterine;Cervical Neoplasms;Cervical Neoplasms, Uterine;Cervix Adenocarcinoma;Cervix Cancer;Cervix Neoplasm;Cervix Neoplasms;Cervix Uteri Adenocarcinoma;NEOPL CERVICAL;NEOPL CERVIX;Neoplasm, Cervical;Neoplasm, Cervix;Neoplasm, Uterine Cervical;Neoplasms, Cervical;Neoplasms, Cervix;Neoplasms, Uterine Cervical;UTERINE CERVICAL NEOPL;Uterine Cervical Cancer;Uterine Cervical Cancers;Uterine Cervical Neoplasm;Uterine Cervical Neoplasms;Uterine Cervix Adenocarcinoma;adenocarcinoma - cervix;adenocarcinoma cervix uteri;adenocarcinoma of cervix;adenocarcinoma of cervix uteri;adenocarcinoma of the cervix;adenocarcinoma of the cervix uteri;adenocarcinoma of the uterine cervix;adenocarcinoma of uterine cervix;cervical adenocarcinoma;cervix adenocarcinoma;cervix uteri adenocarcinoma;uterine cervix adenocarcinoma
Cervical cancer	MONDO_0002974	A primary or metastatic malignant neoplasm involving the cervix.	cancer of uterine cervix;cervix cancer;cervix uteri cancer;malignant cervical neoplasm;malignant cervical tumor;malignant cervix neoplasm;malignant cervix tumor;malignant cervix uteri neoplasm;malignant cervix uteri tumor;malignant neoplasm of cervix;malignant neoplasm of cervix uteri;malignant neoplasm of the cervix;malignant neoplasm of the cervix uteri;malignant neoplasm of the uterine cervix;malignant neoplasm of uterine cervix;malignant tumor of cervix;malignant tumor of cervix uteri;malignant tumor of the cervix;malignant tumor of the cervix uteri;malignant tumor of the uterine cervix;malignant tumor of uterine cervix;malignant uterine cervix neoplasm;malignant uterine cervix tumor;neoplasm of uterine cervix;uterine cervix cancer
Cervical carcinoma	EFO_0001061	A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.;A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.;A carcinoma that affects the cervix uteri or cervical area.;A carcinoma that is located_in the cervix uteri or located_in the cervical area.;Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium.  The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.	Carcinoma of Cervix Uteri;Carcinoma of Uterine Cervix;Carcinoma of cervix;Carcinoma of the Cervix;Carcinoma of the Uterine Cervix;Cervix Carcinoma;Cervix Uteri Carcinoma;Uterine Cervix Carcinoma;cancer of cervix;cancer of the cervix;cancer of the uterine cervix;cancer of uterine cervix;carcinoma cervix uteri;carcinoma of cervix;carcinoma of cervix (disorder);carcinoma of cervix uteri;carcinoma of the Cervix Uteri;carcinoma of the cervix;carcinoma of the cervix uteri;carcinoma of the uterine cervix;carcinoma of uterine cervix;cervical carcinoma;cervical carcinoma (uterus);cervix carcinoma;cervix uteri carcinoma;uterine cervix carcinoma
Cervical disc degenerative disorder	EFO_0009537	Any degenerative disorder affecting one or more vertebral discs of the cervical spine.	cervical Disc Degeneration;cervical Disc degenerative disease;cervical Disc degenerative disorder;cervical disc degenerative disorder;cervical region of vertebral column intervertebral disc degenerative disorder;degeneration of cervical intervertebral disc;intervertebral disc degenerative disorder of cervical region of vertebral column
Cervical glandular intraepithelial neoplasia	EFO_1000165	A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade.	N/A
Cervical squamous cell carcinoma	EFO_1000172	A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion.;A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: Conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.;A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.	cervical squamous cell cancer;cervical squamous cell carcinoma;cervix squamous cell carcinoma;cervix uteri squamous cell carcinoma;squamous cell carcinoma of cervix;squamous cell carcinoma of cervix uteri;squamous cell carcinoma of the cervix;squamous cell carcinoma of the cervix uteri;squamous cell carcinoma of the uterine cervix;squamous cell carcinoma of uterine cervix;squamous cervical cancer;uterine cervix squamous cell carcinoma
Cervicitis	HP_0030160	Inflammation of the uterine cervix.	Uterine cervicitis;Uterine cervix inflammation
Cervix disease	MONDO_0002256	A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.	cervical disorder;disease of uterine cervix;disease or disorder of uterine cervix;disorder of uterine cervix;uterine cervix disease;uterine cervix disease or disorder
Chagas disease	MONDO_0001444	A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.	Chagas disease;Chagas' disease;Chagas' disease with digestive system involvement;Chagas' disease with nervous system involvement;Chagas' disease with other organ involvement;Trypanosoma cruzi caused disease or disorder;Trypanosoma cruzi disease or disorder;Trypanosoma cruzi infectious disease;infection by trypanosoma cruzi
Channelopathy	MONDO_0021016	A disease caused by disturbed function of ion channel subunits or the proteins that regulate them.	disorder of ion channel activity;ion channel activity disease
Channelopathy with epilepsy	Orphanet_182083	N/A	N/A
Charcot-marie-tooth disease	Orphanet_166	N/A	CMT;Charcot-Marie-Tooth hereditary neuropathy
Charcot-marie-tooth disease type 1a	Orphanet_101081	N/A	CMT1A;Microduplication 17p12
Charcot-marie-tooth disease type 1	Orphanet_65753	Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.	Autosomal dominant demyelinating Charcot-Marie-Tooth disease;CMT1;Charcot-Marie-Tooth neuropathy type 1;Hereditary motor and sensory neuropathy type 1
Chemically-induced disorder	MONDO_0029001	Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides.	chemically-induced disorder
Chemokine (c-c motif) ligand 27 measurement	EFO_0008082	quantification of the amount of chemokine (C-C motif) ligand 27 in a sample	N/A
Chickenpox	EFO_0007204	A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.;A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.	Chickenpox;Varicella;chicken pox;chicken pox infection;chickenpox;varicella
Chikungunya encephalitis	EFO_0008494	A viral infectious disease that results in inflammation of the brain caused by Chikungunya virus. The disease is usually manifested as fever, arthralgia and rash.	Chikungunya associated encephalitis
Child behaviour checklist assessment	EFO_0005661	The CBCL is a widely used checklist of between 100 and 120 questions (depending on target age group) for identifying problem behaviour in children.	CBCL
Childhood acute lymphoblastic leukemia	MONDO_0000870	An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.	childhood ALL;childhood acute lymphoblastic leukemia;childhood acute lymphocytic leukemia;childhood acute lymphogenous leukemia;childhood acute lymphoid leukemia;childhood precursor lymphoblastic leukemia;pediatric ALL;pediatric acute lymphoblastic leukemia;pediatric acute lymphocytic leukemia;pediatric acute lymphocytic leukemia (ALL);pediatric acute lymphogenous leukemia;pediatric acute lymphoid leukemia
Childhood acute myeloid leukemia	EFO_0000330	Acute myeloid leukemia occurring in childhood.	acute myeloid leukemia (AML);acute myeloid leukemia of childhood;childhood AML;childhood acute granulocytic leukemia;childhood acute myeloblastic leukemia;childhood acute myelocytic leukemia;childhood acute myelogenous leukemia;childhood acute myeloid leukemia;pediatric AML;pediatric acute myeloblastic leukemia;pediatric acute myelocytic leukemia;pediatric acute myelogenous leukemia;pediatric acute myeloid leukemia
Childhood b acute lymphoblastic leukemia	EFO_1001946	An acute B-lymphoblastic leukemia occurring in children.	B cell childhood ALL;B cell childhood acute lymphoblastic leukemia;B cell childhood acute lymphocytic leukemia;B cell pediatric ALL;B cell pediatric acute lymphoblastic leukemia;B cell pediatric acute lymphocytic leukemia;B-Cell Childhood ALL;B-Cell Childhood Acute Lymphoblastic Leukemia;B-Cell Childhood Acute Lymphocytic Leukemia;B-Cell Childhood Acute Lymphogenous Leukemia;B-Cell Childhood Acute Lymphoid Leukemia;B-cell childhood ALL;B-cell childhood acute lymphoblastic leukemia;B-cell childhood acute lymphocytic leukemia;B-cell childhood acute lymphogenous leukemia;B-cell childhood acute lymphoid leukemia;B-cell pediatric ALL;B-cell pediatric acute lymphoblastic leukemia;B-cell pediatric acute lymphocytic leukemia;B-cell pediatric acute lymphogenous leukemia;B-cell pediatric acute lymphoid leukemia;childhood B acute lymphoblastic leukemia;childhood B-ALL;childhood precursor B-lymphoblastic leukemia
Childhood brain stem glioma	MONDO_0003869	An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.	brain stem glioma;brain stem glioma of childhood;childhood brain stem glioma;childhood brainstem glioma;childhood glioma of brain stem;childhood glioma of brainstem;childhood glioma of the brain stem;childhood glioma of the brainstem;pediatric brain stem glioma;pediatric brainstem glioma;pediatric glioma of brain stem;pediatric glioma of brainstem;pediatric glioma of the brain stem;pediatric glioma of the brainstem
Childhood brain stem neoplasm	MONDO_0002914	A neoplasm that affects the brain stem and occurs during childhood.	brain stem neoplasm;brainstem cancer of childhood;childhood brain stem neoplasm;childhood brain stem tumor;childhood brainstem cancer;childhood brainstem neoplasm;childhood brainstem tumor;childhood neoplasm of brain stem;childhood neoplasm of brainstem;childhood neoplasm of the brain stem;childhood neoplasm of the brainstem;childhood tumor of brain stem;childhood tumor of brainstem;childhood tumor of the brain stem;childhood tumor of the brainstem;pediatric brain stem neoplasm;pediatric brain stem tumor;pediatric brainstem cancer;pediatric brainstem neoplasm;pediatric brainstem tumor;pediatric neoplasm of brain stem;pediatric neoplasm of brainstem;pediatric neoplasm of the brain stem;pediatric neoplasm of the brainstem;pediatric tumor of brain stem;pediatric tumor of brainstem;pediatric tumor of the brain stem;pediatric tumor of the brainstem
Childhood cancer	EFO_1000654	A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).;Any type of cancer that occurs during childhood	childhood cancer;childhood malignant neoplasm;childhood neoplasm, malignant;malignant childhood neoplasm;malignant childhood tumor;malignant neoplasm;malignant pediatric neoplasm;malignant pediatric tumor;pediatric cancer
Childhood ependymoma	MONDO_0003478	An ependymoma that arises from the central nervous system and occurs during childhood.	childhood ependymoma;ependymoma of childhood;pediatric ependymoma
Childhood infratentorial neoplasm	MONDO_0002915	A neoplasm that affects the infratentorial region of the brain and occurs during childhood.	childhood infratentorial neoplasm;childhood infratentorial neoplasms;childhood infratentorial tumor;childhood infratentorial tumors;infratentorial neoplasm of childhood;pediatric infratentorial neoplasm;pediatric infratentorial tumor
Childhood leukemia	MONDO_0004355	An acute or chronic leukemia that occurs during childhood.	childhood leukemia;childhood leukemia (disease);leukemia;leukemia (disease) of childhood;pediatric leukemia (disease)
Childhood neoplasm	MONDO_0021079	A benign or malignant neoplasm arising during childhood.	childhood neoplasm;childhood neoplasm (disease);childhood tumor;neoplasm;neoplasm (disease) of childhood;pediatric neoplasm;pediatric neoplasm (disease);pediatric tumor
Childhood onset asthma	EFO_0004591	Asthma that starts in childhood.	asthma of childhood;childhood asthma;childhood onset asthma;childhood-onset asthma;pediatric asthma
Childhood-onset epilepsy syndrome	Orphanet_98259	N/A	N/A
Childhood precursor t-lymphoblastic lymphoma/leukemia	MONDO_0004403	A T lymphoblastic leukemia/lymphoma that occurs during childhood.	childhood T lymphoblastic leukemia/lymphoma;childhood precursor T-lymphoblastic lymphoma/leukemia;pediatric precursor T-lymphoblastic lymphoma/leukemia;precursor T-lymphoblastic lymphoma/leukemia of childhood
Childhood t lymphoblastic lymphoma	EFO_1001948	A T lymphoblastic lymphoma that occurs during childhood.	Childhood Precursor T-Lymphoblastic Lymphoma;T lymphoblastic lymphoma;T-cell childhood lymphoblastic lymphoma;childhood T lymphoblastic lymphoma;childhood precursor T-lymphoblastic lymphoma
Chlamydiaceae infections	EFO_1001288	Infections with bacteria of the family CHLAMYDIACEAE.	chlamydiaceae infections
Chlamydia infectious disease	MONDO_0021697	Infections with bacteria of the genus CHLAMYDIA.	Chlamydia caused disease or disorder;Chlamydia disease or disorder;Chlamydia infectious disease;chlamydia infectious disease
Chlamydia trachomatis infectious disease	EFO_0007205	A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.;An infection that is caused by Chlamydia trachomatis.	Chlamydia Infections;Chlamydia trachomatis caused disease or disorder;Chlamydia trachomatis disease or disorder;Chlamydia trachomatis infectious disease;Chlamydial Infection;Chlamydial infection;chlamydia trachomatis infectious disease;chlamydial disease
Cholangiocarcinoma	EFO_0005221	A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	CC;CCA;Cholangiocar.- intra/extrahepatic;Cholangiocellular carcinoma;adult primary cholangiocarcinoma;adult primary cholangiocellular carcinoma;bile duct cancer;cholangiocarcinoma;cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma);cholangiocarcinoma, malignant;cholangiosarcoma;intrahepatic bile duct cancer (cholangiocarcinoma)
Cholangitis	MONDO_0004789	An acute or chronic inflammatory process affecting the biliary tract.	biliary tract infection;biliary tree inflammation;cholangitis;inflammation of biliary tree
Cholestasis	MONDO_0001751	Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.	bile occlusion;obstruction of bile duct
Cholesteatoma	EFO_1000675	A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.;A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.	cholesteatoma;cholesteatoma (disease)
Chondrosarcoma	EFO_0000333	A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.;A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones.  It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement.  Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.;A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)	Chondrosarcoma morphology;Chondrosarcoma, NOS;Chondrosarcoma, no ICD-O subtype;Chondrosarcoma, no ICD-O subtype (morphologic abnormality);Chondrosarcomas;Fibrochondrosarcoma;[M]Chondrosarcoma NOS;[M]Chondrosarcoma NOS (morphologic abnormality);chondrosarcoma;chondrosarcoma (disease);chondrosarcoma (morphologic abnormality);chondrosarcoma NOS (morphologic abnormality);chondrosarcoma of bone;chondrosarcoma, malignant
Chordoma	Orphanet_178	Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.	Notochordal sarcoma
Chorea	EFO_0004152	A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.;Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next.	benign familial chorea;chorea;choreia
Choreatic disease	MONDO_0001595	N/A	chorea
Chorioamnionitis	EFO_0009948	N/A	N/A
Choriocarcinoma	EFO_0002893	An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	Choriocarcinoma (disorder);Choriocarcinoma, no ICD-O subtype (morphologic abnormality);Chorioepithelioma;Chorioepithelioma NOS;chorioblastoma;choriocarcinoma;choriocarcinoma (disease);choriocarcinoma, malignant;chorioepithelioma;chorion carcinoma;chorionic carcinoma
Choroid plexus cancer	EFO_0007206	A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.;A malignant neoplasm involving the choroid plexus	Choroid Plexus Neoplasms;cancer of choroid plexus;choroid plexus cancer;malignant choroid plexus neoplasm;malignant choroid plexus neoplasms;malignant choroid plexus tumor;malignant choroid plexus tumors;malignant neoplasm of choroid plexus;malignant neoplasm of the choroid plexus;malignant tumor of choroid plexus;malignant tumor of the choroid plexus;tumor of choroid plexus;tumor of choroid plexus (disorder);tumor of the Choroid Plexus;tumor of the choroid plexus
Choroid plexus carcinoma	MONDO_0016718	A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)	anaplastic choroid plexus papilloma;cancer of choroid plexus;cancer of the choroid plexus;carcinoma of choroid plexus;carcinoma of the choroid plexus;carcinoma, choroid plexus, malignant;choroid plexus cancer;choroid plexus carcinoma;choroid plexus carcinoma (morphologic abnormality);malignant neoplasm of choroid plexus;malignant neoplasm of the choroid plexus
Choroid plexus neoplasm	MONDO_0016717	An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.	choroid plexus neoplasm;choroid plexus tumor;neoplasm of choroid plexus;neoplasm of the choroid plexus;tumor of choroid plexus;tumor of the choroid plexus
Chromophobe renal cell carcinoma	EFO_0000335	A type of carcinoma that comprises a minority of renal cell carcinomas.  It is characterized by loss of chromosomes 1 and Y.  Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical) or eosinophilic.  It has a much better prognosis than other renal cell carcinomas.;Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery.;Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.	Chromophobe Carcinoma of Kidney;Chromophobe Carcinoma of the Kidney;Chromophobe Cell Carcinoma of Kidney;Chromophobe Cell Carcinoma of the Kidney;Chromophobe carcinoma;Chromophobe carcinoma (morphologic abnormality);Chromophobe cell renal carcinoma;Renal cell carcinoma, chromophobe cell (morphologic abnormality);chromophobe adenocarcinoma;chromophobe carcinoma;chromophobe carcinoma of kidney;chromophobe carcinoma of the kidney;chromophobe cell carcinoma of kidney;chromophobe cell carcinoma of the kidney;chromophobe renal cell adenocarcinoma;chromophobe renal cell cancer;chromophobe renal cell carcinoma;kidney chromophobe;renal cell carcinoma, chromophobe cell;renal cell carcinoma, chromophobe type
Chromosomal anomaly	Orphanet_68335	N/A	N/A
Chromosomal anomaly with cataract	MONDO_0020226	N/A	N/A
Chromosomal anomaly with epilepsy as a major feature	MONDO_0015652	N/A	N/A
Chromosomal disease with overgrowth	MONDO_0019717	N/A	N/A
Chronic cystitis	EFO_1000023	Recurrent infections of the urinary bladder;Recurrent infections of the urinary bladder.	Other chronic cystitis;chronic cystitis;cystitis, chronic
Chronic disease	EFO_0009714	A disease persisting for a long time or constantly recurring.	N/A
Chronic encephalitis	MONDO_0020069	Chronic form of encephalitis.	encephalitis, chronic
Chronic fatigue syndrome	EFO_0004540	A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9);a medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.	CFS;Myalgic Encephalomyelitis;Postviral fatigue syndrome;myalgic encephalitis;myalgic encephalomeyelitis/chronic fatigue syndrome;myalgic encephalomyelitis;systemic exertion intolerance disease
Chronic gastritis	EFO_0000337	A stomach disease that is an inflammation of the lining of the stomach.;Inflammation of the stomach that is chronic in nature.	CG - Chronic gastritis;Chronic gastritis (disorder);Chronic gastritis NOS;Chronic gastritis NOS (disorder);Chronic gastritis, NOS;Erosive Gastritis;Erosive gastropathy (disorder);GASTRITIS HEMORRHAGIC;Gastritis (disorder);Gastritis [Ambiguous];Gastritis unspecified (disorder);Hemorrhagic Gastritis;Idiopathic erosive/hemorrhagic gastritis (disorder);Other specified gastritis;Other specified gastritis (disorder);Other specified gastritis NOS (disorder);Other specified gastritis, without mention of hemorrhage;chronic gastritis;chronic gastritis (disease);gastritis;gastritis (disease), chronic
Chronic hepatitis b infection	EFO_0004239	Chronic form of hepatitis B infection.;INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.	chronic Hepatitis B;chronic hepatitis B;hepatitis B infection, chronic;hepatitis B, chronic
Chronic hepatitis c infection	EFO_0004220	Chronic form of hepatitis C infection.;INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.	Hepatitis C, Chronic;chronic Hepatitis C;chronic hepatitis C;chronic hepatitis C infection;chronic hepatitis C with hepatic coma;chronic type C viral hepatitis;chronic viral hepatitis C;hepatitis C infection, chronic;hepatitis C, chronic
Chronic inflammatory demyelinating polyradiculoneuropathy	EFO_1000868	A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.;A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)	CIDP;Polyradiculoneuropathy, Chronic Inflammatory Demyelinating;chronic inflammatory demyelinating polyradiculoneuropathy;chronic inflammatory demyelinating polyradiculoneuropathy (disorder);chronic relapsing polyneuropathy
Chronic kidney disease	EFO_0003884	Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002);Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.;The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.	CKD;CKD - chronic kidney disease;Chronic Kidney Insufficiencies;Chronic Kidney Insufficiency;Chronic Renal Failure;Chronic Renal Insufficiencies;Disease, End-Stage Kidney;Disease, End-Stage Renal;END STAGE KIDNEY DIS;END STAGE RENAL DIS;ESRD;End Stage Kidney Disease;End Stage Renal Disease;End-Stage Kidney Disease;End-Stage Renal Disease;End-Stage Renal Failure;Kidney Disease, End-Stage;Kidney Failure, Chronic;Kidney Insufficiencies, Chronic;Kidney Insufficiency, Chronic;RENAL DIS END STAGE;Renal Disease, End Stage;Renal Disease, End-Stage;Renal Failure, Chronic;Renal Failure, End Stage;Renal Failure, End-Stage;Renal Insufficiencies, Chronic;Renal Insufficiency, Chronic;chronic kidney disease;chronic kidney failure;chronic renal disease;chronic renal insufficiency;kidney disease, chronic;renal failure - chronic
Chronic leukemia	MONDO_0001014	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	chronic leukemia;chronic leukemia (disease);leukemia (disease), chronic
Chronic lung disease	EFO_0009910	According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.	N/A
Chronic lymphocytic leukemia	EFO_0000095	A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.;B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.	B Cell Chronic Lymphocytic Leukemia;B Cell Leukemia, Chronic;B Lymphocytic Leukemia, Chronic;B cell CLL;B cell chronic lymphocytic leukemia;B cell lymphocytic leukemia;B-CLL;B-Cell Chronic Lymphocytic Leukemia;B-Cell Leukemia, Chronic;B-Cell Leukemias, Chronic;B-Lymphocytic Leukemia, Chronic;B-Lymphocytic Leukemias, Chronic;B-cell CLL;B-cell chronic lymphocytic leukaemia/small lymphocytic lymphoma;B-cell chronic lymphocytic leukemia;B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma;B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality);B-cell chronic lymphogenous leukemia;B-cell chronic lymphoid leukemia;B-cell lymphocytic leukemia;BCLL;CH LYM LEUK WO ACHV RMSN;CHR LYM LEUK W/O RMSION;CLL;CLL - Chronic lymphocytic leukaemia;CLL - Chronic lymphocytic leukemia;CLL Lymphoplasmacytoid Lymphoma;CLL Lymphoplasmacytoid Lymphomas;Chronic B-Cell Leukemia;Chronic B-Cell Leukemias;Chronic B-Lymphocytic Leukemia;Chronic B-Lymphocytic Leukemias;Chronic Lymphoblastic Leukemia;Chronic Lymphoblastic Leukemias;Chronic Lymphocytic Leukemias;Chronic lymphatic leukaemia;Chronic lymphatic leukemia;Chronic lymphocytic leukaemia;Chronic lymphocytic leukaemia, B-cell type;Chronic lymphocytic leukemia, B-cell type;Chronic lymphocytic leukemia, morphology (morphologic abnormality);Chronic lymphoid leukaemia;Chronic lymphoid leukaemia, disease;Chronic lymphoid leukemia;Chronic lymphoid leukemia without mention of having achieved remission;Chronic lymphoid leukemia without mention of remission;Chronic lymphoid leukemia, disease;Chronic lymphoid leukemia, disease (disorder);DIFFUSE WELL DIFFER LYMPHOCYTIC LYMPHOMA;Diffuse Well Differentiated Lymphocytic Lymphoma;Diffuse Well-Differentiated Lymphocytic Lymphoma;LYMPHOCYTIC LEUKEMIA CHRONIC B;LYMPHOCYTIC LYMPHOMA DIFFUSE WELL DIFFER;LYMPHOCYTIC LYMPHOMA WELL DIFFER;LYMPHOMA LYMPHOCYTIC DIFFUSE WELL DIFFER;LYMPHOMA LYMPHOCYTIC WELL DIFFER;LYMPHOMA SMALL;Leukemia, B Cell, Chronic;Leukemia, B-Cell, Chronic;Leukemia, Chronic B-Cell;Leukemia, Chronic B-Lymphocytic;Leukemia, Chronic Lymphoblastic;Leukemia, Chronic Lymphocytic;Leukemia, Lymphoblastic, Chronic;Leukemia, Lymphocytic, Chronic;Leukemia, Lymphocytic, Chronic, B Cell;Leukemia, Lymphocytic, Chronic, B-Cell;Leukemias, Chronic B-Cell;Leukemias, Chronic B-Lymphocytic;Leukemias, Chronic Lymphoblastic;Leukemias, Chronic Lymphocytic;Lymphoblastic Leukemia, Chronic;Lymphoblastic Leukemias, Chronic;Lymphocytic Leukemia, Chronic;Lymphocytic Leukemia, Chronic, B Cell;Lymphocytic Leukemia, Chronic, B-Cell;Lymphocytic Leukemias, Chronic;Lymphocytic Lymphoma;Lymphocytic Lymphoma, Diffuse, Well Differentiated;Lymphocytic Lymphoma, Diffuse, Well-Differentiated;Lymphocytic Lymphoma, Small;Lymphocytic Lymphoma, Well Differentiated;Lymphocytic Lymphoma, Well-Differentiated;Lymphocytic Lymphomas;Lymphocytic Lymphomas, Small;Lymphocytic Lymphomas, Well-Differentiated;Lymphoid leukemia, chronic;Lymphoma, CLL Lymphoplasmacytoid;Lymphoma, Lymphocytic;Lymphoma, Lymphocytic, Diffuse, Well Differentiated;Lymphoma, Lymphocytic, Diffuse, Well-Differentiated;Lymphoma, Lymphocytic, Well Differentiated;Lymphoma, Lymphocytic, Well-Differentiated;Lymphoma, Lymphoplasmacytoid, CLL;Lymphoma, Small Cell;Lymphoma, Small Lymphocytic;Lymphoma, Small Lymphocytic, Plasmacytoid;Lymphoma, Small-Cell;Lymphoma, Well-Differentiated Lymphocytic;Lymphomas, CLL Lymphoplasmacytoid;Lymphomas, Lymphocytic;Lymphomas, Small Lymphocytic;Lymphomas, Small-Cell;Lymphomas, Well-Differentiated Lymphocytic;Lymphoplasmacytoid Lymphoma, CLL;Lymphoplasmacytoid Lymphomas, CLL;SMALL LYMPHOMA;Small Cell Lymphoma;Small Lymphocytic Lymphoma;Small Lymphocytic Lymphomas;Small-Cell Lymphoma;Small-Cell Lymphomas;Well-Differentiated Lymphocytic Lymphoma;Well-Differentiated Lymphocytic Lymphomas;chronic B-cell lymphocytic leukemia;chronic lymphatic leukemia;chronic lymphocytic leukemia;chronic lymphocytic leukemia (CLL);chronic lymphogenous leukemia;hematopoeitic - chronic lymphocytic leukemia (CLL);lymphoplasmacytic leukemia;small lymphocytic lymphoma
Chronic myelogenous leukemia	EFO_0000339	A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.;Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.	BCR-ABL Positive chronic myelogenous leukemia;CML;CML - chronic Myelogenous Leukemia;CML - chronic myelogenous leukemia;CML in Remission;Chronic Granulocytic Leukemia;Chronic Granulocytic Leukemias;Chronic Myelocytic Leukemia;Chronic Myelocytic Leukemias;Chronic Myelogenous Leukemias;Chronic Myeloid Leukemias;Granulocytic Leukemia, Chronic;Granulocytic Leukemias, Chronic;LEUKEMIA PHILA POS;Leukemia, Chronic Granulocytic;Leukemia, Chronic Myelocytic;Leukemia, Chronic Myelogenous;Leukemia, Chronic Myeloid;Leukemia, Granulocytic, Chronic;Leukemia, Myelocytic, Chronic;Leukemia, Myelogenous, Chronic;Leukemia, Myelogenous, Chronic, BCR-ABL Positive;Leukemia, Myelogenous, Ph1 Positive;Leukemia, Myelogenous, Ph1-Positive;Leukemia, Myeloid, Chronic;Leukemia, Myeloid, Chronic-Phase;Leukemia, Myeloid, Ph1 Positive;Leukemia, Myeloid, Ph1-Positive;Leukemia, Myeloid, Philadelphia Positive;Leukemia, Myeloid, Philadelphia-Positive;Leukemia, Ph1-Positive Myelogenous;Leukemia, Ph1-Positive Myeloid;Leukemia, Philadelphia-Positive Myeloid;Leukemias, Chronic Granulocytic;Leukemias, Chronic Myelocytic;Leukemias, Chronic Myelogenous;Leukemias, Chronic Myeloid;Leukemias, Ph1-Positive Myelogenous;Leukemias, Ph1-Positive Myeloid;Leukemias, Philadelphia-Positive Myeloid;Myelocytic Leukemia, Chronic;Myelocytic Leukemias, Chronic;Myelogenous Leukemia, Chronic;Myelogenous Leukemia, Ph1 Positive;Myelogenous Leukemia, Ph1-Positive;Myelogenous Leukemias, Chronic;Myelogenous Leukemias, Ph1-Positive;Myeloid Leukemia, Ph1 Positive;Myeloid Leukemia, Ph1-Positive;Myeloid Leukemia, Philadelphia Positive;Myeloid Leukemia, Philadelphia-Positive;Myeloid Leukemias, Chronic;Myeloid Leukemias, Ph1-Positive;Myeloid Leukemias, Philadelphia-Positive;Myeloid leukemia, chronic;Ph1-Positive Myelogenous Leukemia;Ph1-Positive Myelogenous Leukemias;Ph1-Positive Myeloid Leukemia;Ph1-Positive Myeloid Leukemias;Philadelphia-Positive Myelogenous Leukemia;Philadelphia-Positive Myeloid Leukemia;Philadelphia-Positive Myeloid Leukemias;chronic granulocytic leukemia;chronic myelocytic leukemia;chronic myelogenous leukemia;chronic myelogenous leukemia (CML);chronic myelogenous leukemia, BCR-ABL1 Positive;chronic myelogenous leukemia, BCR-ABL1 positive;chronic myelogenous leukemia, no ICD-O subtype (morphologic abnormality);chronic myelogenous leukemias;chronic myeloid leukaemia;chronic myeloid leukemia;chronic myeloid leukemia NOS (disorder);chronic myeloid leukemia in remission;chronic myeloid leukemia in remission (disorder);chronic myeloid leukemia without mention of remission;chronic myeloid leukemia, disease (disorder);hematopoeitic - chronic myelocytic leukemia (CML);myeloid leukemia, chronic
Chronic myelomonocytic leukemia	EFO_1001779	A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.;A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.	CMML;Leukemia, Myelomonocytic, Chronic;chronic myelomonocytic leukemia;chronic myelomonocytic leukemia (CMML)
Chronic myeloproliferative disorder	EFO_0002428	A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008);Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology.	CMPD;CMPD, U;MPD;MPN;NCI CTEP SDC Chronic Myeloproliferative Disease Sub-Category Terminology;chronic myeloproliferative disease;chronic myeloproliferative disorder;chronic myeloproliferative neoplasm;myeloproliferative disorder;myeloproliferative neoplasm;myeloproliferative neoplasm, chronic;myeloproliferative tumor
Chronic obstructive pulmonary disease	EFO_0000341	A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.;A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.;A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.	Airflow Obstruction, Chronic;Airflow Obstructions, Chronic;CAFL - Chronic airflow limitation;CAL - Chronic airflow limitation;CAO - Chronic airflow obstruction;CHRONIC OBSTRUCTIVE AIRWAY DIS;CHRONIC OBSTRUCTIVE LUNG DIS;CHRONIC OBSTRUCTIVE PULM DIS;CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD);COAD;COAD - Chronic obstructive airways disease;COLD;COLD (chronic obstructive lung disease);COLD - Chronic obstructive lung disease;COPD;COPD - Chronic obstructive pulmonary disease;COPD NOS;COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE;COPD, chronic obstructive pulmonary disease;Chronic Airflow Obstruction;Chronic Airflow Obstructions;Chronic Obstructive Airways Disease;Chronic Obstructive Lung Disease;Chronic Obstructive Pulmonary Disease (COPD);Chronic airflow limitation;Chronic airway disease;Chronic airway obstruction;Chronic irreversible airway obstruction;Chronic obstructive lung disease, NEC;Chronic obstructive lung disease, NOS;Chronic obstructive pulmonary disease NOS;Chronic obstructive pulmonary disease finding;Chronic obstructive pulmonary disease finding (finding);DISEASE (COPD), CHRONIC OBSTRUCTIVE;Dops;OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC;PULM DIS CHRONIC OBSTRUCTIVE;PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE;Pulmonary Disease, Chronic Obstructive;chronic airway obstruction, NEC in ICD9CM_2006;chronic airway obstruction, not elsewhere classified;chronic obstructive airway disease;chronic obstructive airways disease;chronic obstructive airways disease NOS;chronic obstructive airways disease NOS (disorder);chronic obstructive lung disease;chronic obstructive lung disease (disorder);chronic obstructive lung disease [Ambiguous];chronic obstructive pulmonary disease;chronic obstructive pulmonary disease (COPD);chronic obstructive pulmonary disease and allied conditions;chronic obstructive pulmonary disease, (COPD);cold;cold (chronic obstructive lung disease);disease (COPD), chronic obstructive;obstructive lung disease, chronic;obstructive pulmonary disease (COPD), chronic;pulmonary disease (COPD), chronic obstructive
Chronic pain	HP_0012532	Persistent pain, usually defined as pain that has laster longer than 3 to 6 months.	Chronic pain;Long-lasting pain
Chronic pain syndrome	MONDO_0024317	Chronic form of disorder involving pain.	chronic disorder involving pain;chronic pain disease;disorder involving pain, chronic
Chronic pancreatitis	EFO_0000342	A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.;INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse.	CP - Chronic pancreatitis;Chronic pancreatitis (disorder);Pancreatitis, Chronic;Pancreatitis, recurrent;Recurrent pancreatitis;Recurrent pancreatitis (disorder);Relapsing pancreatitis;Relapsing pancreatitis (disorder);chronic pancreatitis;chronic pancreatitis (disorder) [Ambiguous];pancreatitis, chronic
Chronic progressive multiple sclerosis	EFO_0003840	A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)	MS CHRONIC PROGRESSIVE;MULTIPLE SCLEROSIS SECOND PROGRESSIVE;Multiple Sclerosis, Chronic Progressive;Multiple Sclerosis, Primary Progressive;Multiple Sclerosis, Progressive Relapsing;Multiple Sclerosis, Remittent Progressive;Multiple Sclerosis, Secondary Progressive;Primary Progressive Multiple Sclerosis;Progressive Relapsing Multiple Sclerosis;Remittent Progressive Multiple Sclerosis;SECOND PROGRESSIVE MULTIPLE SCLEROSIS;Secondary Progressive Multiple Sclerosis;chronic progressive multiple sclerosis
Chronic pulmonary heart disease	MONDO_0001493	Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.	Cor pulmonale
Chronic rhinosinusitis	EFO_1000024	Chronic form of sinusitis.;Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks	chronic rhinosinusitis;chronic sinusitis;sinusitis, chronic
Ciliopathy	EFO_0003900	A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.;Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.	CILIARY MOTILITY DIS;Cilia Syndrome, Immotile;Cilia Syndromes, Immotile;Ciliary Dyskinesia;Ciliary Dyskinesias;Ciliary Motility Disorder;Ciliary Motility Disorders;Disorder, Ciliary Motility;Disorders, Ciliary Motility;Dyskinesia, Ciliary;Dyskinesias, Ciliary;Immotile Cilia Syndrome;Immotile Cilia Syndromes;Syndrome, Immotile Cilia;Syndromes, Immotile Cilia;ciliopathy
Circadian rhythm	EFO_0004354	The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.	diurnal rhythm;twenty-four hour rhythm
Cirrhosis of liver	EFO_0001422	A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.;A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholisms, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.;Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.	CL - Cirrhosis of liver;Cirrhoses, Hepatic;Cirrhoses, Liver;Cirrhosis of liver (disorder);Cirrhosis of liver NOS;Cirrhosis of liver NOS (disorder);Cirrhosis of liver without mention of alcohol;Cirrhosis of liver, NOS;Cirrhosis, Hepatic;Cirrhosis, Liver;Fibroses, Liver;Fibrosis, Liver;Hepatic Cirrhoses;Hepatic cirrhosis;Hepatic cirrhosis, NOS;Liver Cirrhoses;Liver Fibroses;Liver Fibrosis;cirrhosis;cirrhosis of liver;liver cirrhosis
Classic galactosemia	Orphanet_79239	Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.	GALT deficiency;Galactose-1-phosphate uridyltransferase deficiency;Galactosemia type 1
Clear cell adenocarcinoma	EFO_0000348	A malignant neoplasm composed of glandular epithelial clear cells.  Various architectural patterns may be seen, including papillary, tubulocystic, and solid.;A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.;An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)	Adenocarcinoma, Clear Cell;Adenocarcinomas, Clear Cell;Cell Adenocarcinoma, Clear;Cell Adenocarcinomas, Clear;Clear Cell Adenocarcinomas;Clear cell adenocarcinoma (morphologic abnormality);Clear cell adenocarcinoma NOS (morphologic abnormality);Clear cell adenocarcinoma, NOS;Clear cell adenocarcinoma, mesonephroid;Mesonephroid Clear cell carcinoma;Mesonephroid clear cell adenocarcinoma;Mesonephroid clear cell carcinoma;Mesonephroma NOS (morphologic abnormality);Mesonephroma, malignant;Mesonephroma, malignant (morphologic abnormality);Wolffian duct neoplasm;[M]Clear cell adenocarcinoma NOS;[M]Clear cell adenocarcinoma NOS (morphologic abnormality);adenocarcinoma, clear cell, malignant;clear cell adenocarcinoma;clear cell adenocarcinoma (morphologic abnormality);clear cell adenocarcinoma NOS (morphologic abnormality);clear cell carcinoma;malignant Mesonephroma;mesonephroma;water-clear cell adenocarcinoma;water-clear cell adenocarcinoma (morphologic abnormality);water-clear cell carcinoma
Clear cell renal carcinoma	EFO_0000349	A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network.  The tumor may metastasize to unusual sites and late metastasis is common.;A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.;A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney.;Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney.	Clear Cell Adenocarcinoma of Kidney;Clear Cell Adenocarcinoma of the Kidney;Clear Cell Adenocarcinoma, Kidney;Clear Cell Carcinoma of the Kidney;Clear Cell Renal Cell Carcinoma;Clear cell carcinoma of kidney (disorder);Conventional (Clear Cell) Renal Cell Adenocarcinoma;Conventional Renal Cell Carcinoma;Grawitz Tumor;Grawitz tumor;Hypernephroma;Kidney Clear Cell Adenocarcinoma;Kidney Clear Cell Carcinoma;RCC, clear cell adenocarcinoma;Renal Clear Cell Adenocarcinoma;Renal Clear Cell Carcinoma;clear cell adenocarcinoma of kidney;clear cell adenocarcinoma of the kidney;clear cell adenocarcinoma, kidney;clear cell carcinoma of kidney;clear cell carcinoma of the kidney;clear cell kidney carcinoma;clear cell renal carcinoma;clear cell renal cell cancer;clear cell renal cell carcinoma;conventional (Clear cell) renal cell carcinoma;conventional (clear cell) renal cell adenocarcinoma;conventional (clear cell) renal cell carcinoma;conventional renal cell carcinoma;hypernephroma;kidney clear cell adenocarcinoma;kidney clear cell carcinoma;renal cell carcinoma, clear cell adenocarcinoma;renal clear cell adenocarcinoma;renal clear cell carcinoma
Cleft lip	EFO_0003959	Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.	Cleft Lips;Harelip;Harelips;Lip, Cleft;Lips, Cleft
Cleft palate	HP_0000175	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.;Congenital fissure of the soft and/or hard palate, due to faulty fusion.	Cleft Palates;Palate, Cleft;Palates, Cleft
Cleidocranial dysplasia and isolated cranial ossification defect	Orphanet_93451	N/A	N/A
Cleidocranial dysplasia	Orphanet_1452	Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.	Cleidocranial dysostosis
Clinical and behavioural ideal cardiovascular health	EFO_0007654	the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure, diabetes status, BMI and smoking status	N/A
Clinical ideal cardiovascular health	EFO_0007653	the characteristics of a person's cardiovascular health based on a number of factors including cholesterol levels in the absence of treatment, blood pressure and diabetes status	N/A
Cns demyelinating autoimmune disease	EFO_1000870	Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens.;Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.	CNS demyelinating autoimmune disease;Demyelinating Autoimmune Diseases, CNS
Coagulation protein disease	MONDO_0002242	Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.	coagulation factor deficiency;coagulation factor deficiency syndrome
Cocaine dependence	EFO_0002610	A drug dependence that is a psychological dependency on the regular use of cocaine.;A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.	Cocaine addiction;Cocaine dependence (disorder);Cocaine dependence, unspecified (disorder);Cocaine dependence, unspecified use;Cocaine drug dependence NOS (disorder);Mental and behavioral disorder due to use of cocaine: dependence syndrome (disorder);cocaine addiction;cocaine dependence
Coccidiosis	EFO_0007212	A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.;A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.	Coccidiosis;Coccidiosis (& [intestinal]);coccidiosis;coccidiosis (& [intestinal])
Coenzyme q10 measurement	EFO_0007836	quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression	CoQ10 measurement
Coffee consumption	EFO_0004330	Behaviors associated with the ingesting of coffee	caffeine consumption
Cognition	EFO_0003925	Intellectual or mental process whereby an organism becomes aware of or obtains knowledge.	cognitive function
Cognitive disorder	EFO_1001457	A disease affects cognitive processes.;Disturbances in mental processes related to learning, thinking, reasoning, and judgment.	Cognition Disorders;Cognitive Defects;Cognitive Deficits;cognitive disease;cognitive disorder
Cognitive function measurement	EFO_0008354	quantification of some aspect of cognitive function	N/A
Cognitive impairment	HP_0100543	Abnormality in the process of thought including the ability to process information. 	Intellectual impairment;cognitive abnormality;cognitive defects;cognitive deficits;mental impairment
Colitis	EFO_0003872	Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER.;Inflammation of the colon.	Colitides;colitis;colitis (disease);colon inflammation;inflammation of colon
Collagenopathy	MONDO_0004603	N/A	N/A
Collagenopathy type 2 alpha 1	MONDO_0022800	Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.	COL2A1 disease or disorder;disease or disorder caused by mutation in COL2A1
Collecting duct carcinoma	EFO_0003016	A carcinoma that arises from epithelial cells of the collecting duct of renal tubule;Also known as collecting duct carcinoma, this is a rare type of renal carcinoma.  It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor.;Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).	BDC;Bellini Duct Carcinoma;Bellini carcinoma;Bellini duct carcinoma;Carcinoma of Collecting Ducts of Bellini;Carcinoma of Kidney Collecting Duct;Carcinoma of Renal Collecting Duct;Carcinoma of the Collecting Ducts of Bellini;Carcinoma of the Kidney Collecting Duct;Carcinoma of the Renal Collecting Duct;Collecting duct carcinoma (morphologic abnormality);Kidney Collecting Duct Carcinoma;Renal Collecting Duct Carcinoma;Renal carcinoma, collecting duct type;cDC;carcinoma of collecting duct of renal tubule;carcinoma of collecting ducts of Bellini;carcinoma of kidney collecting duct;carcinoma of renal collecting duct;carcinoma of the collecting ducts of Bellini;carcinoma of the kidney collecting duct;carcinoma of the renal collecting duct;collecting duct carcinoma;collecting duct of renal tubule carcinoma;collecting duct renal cancer;collecting duct renal cell carcinoma;kidney collecting duct carcinoma;renal Medullary carcinoma;renal carcinoma, collecting duct type;renal collecting duct carcinoma;renal medullary carcinoma
Coloboma	MONDO_0001476	An abnormality in which a part of a structure in one or both eyes is missing.	coloboma of eye;coloboma of the eye
Colon adenocarcinoma	EFO_1001949	A carcinoma that arises from glandular epithelial cells of the colon;An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	Adenocarcinoma - colon;Adenocarcinoma of Colon;Colonic Adenocarcinoma;adenocarcinoma - colon;adenocarcinoma of colon;adenocarcinoma of the colon;colon adenocarcinoma;colonic adenocarcinoma
Colon adenoma	MONDO_0000527	An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	adenoma of colon;adenoma of the colon;colon adenoma;colonic adenoma
Colon carcinoma	EFO_1001950	A carcinoma that arises from epithelial cells of the colon;A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	Carcinoma of Colon;Colon Cancer;Colonic Carcinoma;carcinoma of colon;carcinoma of the colon;colon cancer;colon carcinoma;colonic carcinoma
Colonic disease	MONDO_0003409	Pathological processes in the colon region of the large intestine (intestine, large).	colon disease;colon disease or disorder;colon disorder;disease of colon;disease or disorder of colon;disorder of colon
Colonic neoplasm	EFO_0004288	A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.;Tumors or cancer of the COLON.	colon cancer;colon neoplasm;colon neoplasm (disease);colon tumor;colonic cancer;colonic neoplasm;colonic neoplasms;colonic tumor;neoplasm of colon;neoplasm of the colon;tumor of colon;tumor of the colon
Colorectal adenocarcinoma	EFO_0000365	A malignant tumor usually arising from the epithelium lining the large intestinal mucosa.  Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe.  Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype.  Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004;An adenocarcinoma arising from the colon.  It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease.  Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits.  According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated.  Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma.  Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.;The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.;Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.	Carcinoma of the Colon;Carcinoma, Colorectal;Carcinomas, Colorectal;Colon Cancer;Colonic Carcinoma;Colonic adenocarcinoma;Colorectal Carcinoma;Colorectal Carcinomas;Colorectal Tumor;Colorectal Tumors;Tumor, Colorectal;Tumors, Colorectal;adenocarcinoma of colon;adenocarcinoma of large bowel;adenocarcinoma of large intestine;adenocarcinoma of the colon;adenocarcinoma of the large bowel;adenocarcinoma of the large intestine;carcinoma of colon;carcinoma of colon (disorder);colon adenocarcinoma;colon carcinoma;colorectal (colon or rectal) adenocarcinoma;colorectal adenocarcinoma;colorectum adenocarcinoma;large bowel adenocarcinoma;large intestine adenocarcinoma;rectal carcinoma
Colorectal adenoma	EFO_0005406	An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	adenoma of large bowel;adenoma of large intestine;adenoma of the large bowel;adenoma of the large intestine;colorectal adenoma;colorectum adenoma;large bowel adenoma;large intestine adenoma
Colorectal cancer	EFO_0005842	A large intestine cancer that is located in the colon and/or located in the rectum.;A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	Cancer, Colorectal;Cancers, Colorectal;Colorectal Cancer;Colorectal Cancers;Malignant Colorectal Neoplasm;cancer of colorectum;cancer of large bowel;cancer of large intestine;cancer of the large bowel;colorectal cancer;colorectum cancer;malignant colorectal neoplasm;malignant colorectal tumor;malignant colorectum neoplasm;malignant large bowel neoplasm;malignant large bowel tumor;malignant large intestine neoplasm;malignant large intestine tumor;malignant neoplasm of colorectum;malignant neoplasm of large bowel;malignant neoplasm of large intestine;malignant neoplasm of the large bowel;malignant neoplasm of the large intestine;malignant tumor of large bowel;malignant tumor of large intestine;malignant tumor of the large bowel;malignant tumor of the large intestine
Colorectal carcinoma	EFO_1001951	A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	CRC;Cancer of Large Bowel;Cancer of Large Intestine;Carcinoma of Large Bowel;Carcinoma of Large Intestine;Colorectal Cancer;Large Bowel Cancer;Large Bowel Carcinoma;Large Intestine Cancer;Large Intestine Carcinoma;cancer of large bowel;cancer of large intestine;cancer of the large bowel;cancer of the large intestine;carcinoma of colorectum;carcinoma of large bowel;carcinoma of large intestine;carcinoma of the large bowel;carcinoma of the large intestine;colorectal (colon or rectal) cancer;colorectal cancer;colorectal carcinoma;colorectum carcinoma;large bowel cancer;large bowel carcinoma;large intestine cancer;large intestine carcinoma
Colorectal neoplasm	EFO_0004142	A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.;uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix.	COLORECTAL NEOPL;Colorectal Neoplasm;Colorectal Neoplasms;NEOPL COLORECTAL;Neoplasm, Colorectal;Neoplasms, Colorectal;colorectal neoplasm;colorectal tumor;colorectum neoplasm;colorectum neoplasm (disease);colorectum tumor;large bowel neoplasm;large bowel tumor;large intestinal neoplasm;large intestine neoplasm;large intestine tumor;neoplasm of colorectum;neoplasm of large bowel;neoplasm of the large bowel;tumor of colorectum;tumor of large bowel;tumor of the large bowel
Combined hyperlipidemia	Orphanet_79211	N/A	Combined hyperlipoproteinemia;Mixed hyperlipidemia;Mixed hyperlipoproteinemia
Combined t and b cell immunodeficiency	Orphanet_101972	N/A	N/A
Commensal bacterial infectious disease	MONDO_0000315	A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.	opportunistic bacterial infectious disease
Common bile duct disease	MONDO_0002886	A disease involving the common bile duct.	common bile duct disease;common bile duct disease or disorder;disease of common bile duct;disease or disorder of common bile duct;disorder of common bile duct
Common bile duct neoplasm	EFO_1000876	Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI.;Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.	Common Bile Duct Neoplasms;common bile duct neoplasm;common bile duct neoplasm (disease);common bile duct tumor;neoplasm of common bile duct;neoplasm of common bile duct (disorder);tumor of common bile duct
Common wart	EFO_0009662	A wart caused by human papillomavirus. It can appear anywhere on the skin.;A wart caused by human papillomavirus. It can appear anywhere on the skin. [ NCIT:C27087 ]	common wart;verruca vulgaris;viral wart
Complement c4 measurement	EFO_0004984	Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes.	complement C4 levels
Complement component c7 measurement	EFO_0008093	quantification of the amount of complement component C7 in a sample	N/A
Complex chromosomal rearrangement	Orphanet_263708	N/A	N/A
Complex neurodevelopmental disorder	MONDO_0100038	A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).	N/A
Complex regional pain syndrome	EFO_1001998	Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.	Complex regional pain syndromes;complex regional pain syndrome
Conduct disorder	EFO_0004216	A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.;A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994).	conduct dis;conduct disorder
Conduction system disorder	EFO_0005137	A conduction system disorder, or disease is a form of heart disease in which the electrical conduction system of the heart is disrupted, for example branch block;A disease involving the conducting system of heart.	conducting system of heart disease;conducting system of heart disease or disorder;conduction system disease;conduction system disorder;disease of conducting system of heart;disease or disorder of conducting system of heart;disorder of conducting system of heart;heart conduction system disease
Congenital abnormality	MONDO_0000839	Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.	SCONG;birth defect;congenital Abnormality;congenital abnormality;congenital anatomic Abnormality;congenital anatomical Abnormality;congenital anomalies of fetus;congenital anomaly;congenital anomaly or birth defect;congenital defect;congenital defect/deformity;congenital deformity;congenital malformation;defect/deformity, Congenital;defect/deformity, congenital;deformity/defect, Congenital;physical disorder
Congenital alacrima	Orphanet_98604	N/A	N/A
Congenital anemia	MONDO_0000577	Anemia, the cause of which is present at birth.	congenital anemia;congenital anemia (disease)
Congenital anomaly of cardiovascular system	MONDO_0024239	A disease that has its basis in the disruption of cardiovascular system development.	cardiovascular system development disease;congenital Abnormality of the circulatory system;congenital anomaly of cardiovascular system;congenital cardiovascular Abnormality;congenital cardiovascular anomaly;disorder of cardiovascular system development
Congenital diaphragmatic hernia	HP_0000776	The presence of a hernia of the diaphragm present at birth.	Diaphragmatic hernia
Congenital enteropathy involving intestinal mucosa development	Orphanet_104007	N/A	N/A
Congenital heart disease	EFO_0005207	A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.;any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels	CHD;congenital anomaly of heart;congenital heart defect;congenital heart defects;congenital heart disease;heart defect;heart malformation
Congenital heart malformation	EFO_0005269	A disease that has its basis in the disruption of heart development.;any structural anomly of the heart that is present from birth	congenital heart malformation;disorder of heart development;heart development disease
Congenital hematological disorder	MONDO_0009332	A disorder of the blood that is present at birth.	congenital hematological disorder;congenital hematological system disease
Congenital hypogonadotropic hypogonadism	Orphanet_174590	Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).	N/A
Congenital hypothyroidism	HP_0000851	A type of hypothyroidism with congenital onset.	Hypothyroidism, congenital
Congenital isolated hyperinsulinism	Orphanet_657	Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).	CHI;PHHI;Persistent hyperinsulinemic hypoglycemia of infancy
Congenital left-sided heart lesions	EFO_0005938	serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth	LVOTD;congenital left-sided heart lesions;congential LSLs;left ventricular obstructive tract defect
Congenital limb malformation	MONDO_0019054	N/A	N/A
Congenital myopathy	Orphanet_97245	N/A	N/A
Congenital nephrotic syndrome	HP_0008677	Nephrotic syndrome with onset within the first three months of life.	Congenital nephrosis
Congenital nervous system disorder	MONDO_0002320	An abnormality of the nervous system that is present at birth or detected in the neonatal period.	congenital abnormality of the nervous system;congenital nervous system disorder;congenital neurologic anomaly
Congenital polycystic liver disease	MONDO_0000447	A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.	polycystic liver disease
Congenital structural myopathy	MONDO_0002921	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.	centronuclear myopathy
Congenital toxoplasmosis	EFO_0007220	A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.;Toxoplasma infection that is present from birth.	Congenital toxoplasmosis;Congenital toxoplasmosis (disorder);Toxoplasma embryofetopathy;Toxoplasma embryopathy;Toxoplasmosis - congen.;Toxoplasmosis, Congenital;congenital toxoplasmosis;mother-to-child transmission of toxoplasmosis;toxoplasmosis - congen.;toxoplasmosis, congenital
Congenital vitreoretinal dysplasia	Orphanet_98669	N/A	N/A
Congestive heart failure	EFO_0000373	1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.;A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.;Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.;Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.;Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).;Heart failure involving the LEFT VENTRICLE.;Heart failure involving the RIGHT VENTRICLE.;Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.	CCF - Congestive cardiac failure;CHF;CHF - Congestive heart failure;CHF NOS;Cardiac Failure;Cardiac Failure Congestive;Cardiac failure congestive;Congestive cardiac failure;Congestive heart disease;Congestive heart failure (disorder);Congestive heart failure, unspecified;Congetive cardiac failure;Decompensation, Heart;FAILURE, CONGESTIVE HEART;Heart Decompensation;Heart Failure, Congestive;Myocardial Failure;congestive heart disease;congestive heart failure;failure, congestive heart;heart failure, congestive;weak heart
Conjunctival disorder	EFO_1000203	Any disorder of the conjunctiva.;Any disorder of the conjunctiva. 	conjunctiva disease;conjunctiva disease or disorder;conjunctival disease;conjunctival disorder;disease of conjunctiva;disease or disorder of conjunctiva;disorder of conjunctiva
Conjunctival lymphangiectasia	Orphanet_98614	N/A	N/A
Conjunctival telangiectasia	Orphanet_98613	N/A	N/A
Conjunctival tumor	Orphanet_98616	N/A	N/A
Conjunctival vascular anomaly	Orphanet_98611	N/A	N/A
Conjunctival vascular disease	MONDO_0001174	A disorder of the vasculature of the cornea.	conjunctival vascular abnormality;conjunctival vascular disorder;conjunctival vasculature disease;conjunctival vasculature disease or disorder;disease of conjunctival vasculature;disease or disorder of conjunctival vasculature;disorder of conjunctival vasculature;vascular abnormalities of conjunctiva
Connective and soft tissue neoplasm	MONDO_0044334	A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.	connective and soft tissue neoplasm;connective and soft tissue tumor;musculoskeletal and soft tissue neoplasm;musculoskeletal and soft tissue tumor;neoplasm of skeletal and soft tissue;neoplasm of soft tissue and bone;neoplasm of soft tissue and skeleton;skeletal and soft tissue neoplasm;skeletal and soft tissue tumor;soft tissue and bone neoplasm;soft tissue and bone tumor;tumor of skeletal and soft tissue;tumor of soft tissue and bone;tumor of soft tissue and skeleton
Connective tissue cancer	MONDO_0002176	A malignant neoplasm involving the connective tissue	cancer of connective tissue;connective tissue cancer;malignant connective tissue neoplasm;malignant neoplasm of connective tissue;neoplasm of connective tissues;tumour of connective tissue
Connective tissue disease	EFO_1001986	A disease involving the connective tissue.;A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.	Connective Tissue Disorder;Connective Tissue Disorders;connective tissue disease;connective tissue disease or disorder;connective tissue diseases;connective tissue disorder;connective tissue disorders;disease of connective tissue;disease of connective tissues;disease or disorder of connective tissue;disease, connective tissue;disorder of connective tissue;primary disorder of connective tissue;tissue disease, connective
Connective tissue disease with eye involvement	Orphanet_98702	N/A	N/A
Connective tissue neoplasm	MONDO_0021581	Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.	connective tissue neoplasm;connective tissue neoplasm (disease);connective tissue tumor;neoplasm of connective tissue;neoplasm of connective tissues;tumor of connective tissue;tumour of connective tissue
Conotruncal heart malformations	Orphanet_2445	Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA) (see these terms), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome (see this term). A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).	Taussig-Bing syndrome or defect;conotruncal heart malformations
Conscientiousness measurement	EFO_0007912	quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI)	N/A
Constitutional deficiency anemia	Orphanet_248296	N/A	N/A
Constitutional neutropenia	Orphanet_101987	N/A	N/A
Constriction rings syndrome	Orphanet_295000	Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.	Streeter dysplasia;congenital ring constrictions;constriction band syndrome;constriction rings syndrome
Contact dermatitis	EFO_0005319	An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.;a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)	contact dermatitis;contact dermatitis/eczema;dermatitis venenata;dermatitis, venenata
Contactin-2 measurement	EFO_0008100	quantification of the amount of contactin-2 in a sample	N/A
Contracture	EFO_0003899	Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.	Contractures;contracture
Contrast sensitivity measurement	EFO_0005419	quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease.	N/A
Corneal disease	EFO_0009464	A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.;A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [ NCIT ]	cornea disease;cornea disease or disorder;corneal disease;corneal disorder;disease of cornea;disease or disorder of cornea;disorder of cornea
Corneal dystrophy	Orphanet_34533	The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.	N/A
Corneal endothelial dystrophy	MONDO_0000766	A corneal dystrophy (disease) that involves the corneal epithelium.	corneal dystrophy (disease) of corneal epithelium;corneal epithelium corneal dystrophy (disease)
Corneal neovascularization	EFO_1000880	New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION.;New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.	Corneal Neovascularization;Corneal neovascularization;Corneal neovascularization (disorder);Corneal neovascularization NOS (disorder);Corneal neovascularization, unspecified;Unspecified corneal neovascularization (disorder);corneal neovascularization
Corneal topography	EFO_0004345	The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty.	videokeratography
Cornea neoplasm	MONDO_0021238	A neoplasm (disease) that involves the cornea.	cornea neoplasm (disease);cornea tumor;corneal neoplasm;corneal tumor;neoplasm of cornea;neoplasm of the cornea;tumor of cornea;tumor of the cornea
Cornea squamous cell carcinoma	MONDO_0001740	N/A	N/A
Coronary artery calcification	EFO_0004723	Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction.	N/A
Coronary artery disease	EFO_0000378	An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.;Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.;Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC);Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.;Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).	Arterioscleroses, Coronary;Arteriosclerosis, Coronary;Artery Disease, Coronary;Artery Diseases, Coronary;Atheroscleroses, Coronary;Atherosclerosis, Coronary;CAD;CHD;CHD (coronary heart disease);CORONARY ARTERY DIS;CORONARY DIS;Coronary Arterioscleroses;Coronary Arteriosclerosis;Coronary Artery Diseases;Coronary Atheroscleroses;Coronary Atherosclerosis;Coronary Disease;Coronary Diseases;Disease, Coronary;Disease, Coronary Artery;Disease, Coronary Heart;Diseases, Coronary;Diseases, Coronary Artery;Diseases, Coronary Heart;coronary artery disease;coronary artery disease or disorder;coronary disease;coronary heart disease;disease of coronary artery;disease or disorder of coronary artery;disorder of coronary artery
Coronary atherosclerosis	MONDO_0021661	Atherosclerosis of the coronary vasculature.	arteriosclerosis disorder of coronary artery;coronary artery arteriosclerosis (disease);coronary artery arteriosclerosis disorder;coronary atherosclerosis
Coronary heart disease	EFO_0001645	An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.;Coronary heart disease is a cardiovascular disease in which there is a failure of coronary circulation to supply adequate circulation to cardiac muscle and surrounding tissue.;Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.	CHD;CHD (coronary heart disease);CHD - Coronary heart disease;CORONARY DIS;CORONARY HEART DIS;Coronary Artery Disease;Coronary Disease;Coronary Diseases;Coronary Heart Diseases;Disease, Coronary;Disease, Coronary Heart;Diseases, Coronary;Diseases, Coronary Heart;Heart Disease, Coronary;Heart Diseases, Coronary
Coronaviridae infectious disease	EFO_0007223	A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.;Virus diseases caused by coronaviridae.	Coronaviridae Infections;Coronaviridae infectious disease
Coronavirus infectious disease	EFO_0007224	A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.;Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).	Coronavirus Infections;coronavinae infectious disease
Cor pulmonale	MONDO_0004596	Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.	cardiopulmonary disease;cor pulmonale;pulmonary heart disease
Corpus uteri neoplasm	MONDO_0021254	A neoplasm (disease) that involves the body of uterus.	body of uterus neoplasm;body of uterus neoplasm (disease);body of uterus tumor;corpus uteri tumor;neoplasm of body of uterus;neoplasm of corpus uteri;neoplasm of the body of uterus;neoplasm of the corpus uteri;neoplasm of the uterine body;neoplasm of the uterine corpus;neoplasm of uterine body;neoplasm of uterine corpus;tumor of body of uterus;tumor of corpus uteri;tumor of the corpus uteri;tumor of the uterine body;tumor of the uterine corpus;tumor of uterine body;tumor of uterine corpus;uterine body neoplasm;uterine body tumor;uterine corpus neoplasm;uterine corpus tumor
Cortical thickness	EFO_0004840	Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease and other neurological conditions	N/A
Corticobasal degeneration	Orphanet_278	N/A	N/A
Costello syndrome	Orphanet_3071	Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.	FCS syndrome;Faciocutaneoskeletal syndrome
Cowden syndrome	Orphanet_201	 mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.	Cowden disease;Cowden syndrome;Cowden's disease;Lhermitte-Duclos disease;Multiple hamartoma syndrome;PTEN hamartoma syndrome;dysplastic gangliocytoma of cerebellum;multiple hamartoma syndrome
Coxsackievirus infectious disease	EFO_0007226	A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.;An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue.	Coxsackievirus Infections;coxsackievirus infectious disease
C-peptide measurement	EFO_0005187	A measurement of the connecting peptide, or C-peptide -  a short 31-amino-acid polypeptide that connects insulin's A-chain to its B-chain in the proinsulin molecule. C-peptide measurements may be made for clinical diagnostics.As a means of distinguishing type 1 diabetes from type 2 diabetes or Maturity onset diabetes of the young (MODY).To determine how much of their own natural insulin a person is producing as C-peptide is secreted in equimolar amounts to insulin. C-peptide may be used for determining the possibility of gastrinomas associated with Multiple Endocrine Neoplasm syndromes.C-peptide levels may be checked in women with Polycystic Ovarian Syndrome (PCOS) to help determine degree of insulin resistance	N/A
Cranial malformation	MONDO_0020018	N/A	N/A
Cranial nerve neuropathy	MONDO_0003569	A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.	cranial nerve disease;cranial nerve disorder;cranial neuron projection bundle disease;cranial neuron projection bundle disease or disorder;cranial neuropathy;disease of cranial neuron projection bundle;disease or disorder of cranial neuron projection bundle;disorder of cranial nerve;disorder of cranial neuron projection bundle
Cranial nerve palsy	EFO_0009489	Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.;Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. [ NCIT ]	cranial nerve palsy;cranial nerve paralysis
C-reactive protein measurement	EFO_0004458	C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood.  Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers.	C-reactive protein level
Creutzfeldt jacob disease	EFO_0004226	A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)).;A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.	CJD;CJD (Creutzfeldt Jakob disease);Creutzfeldt Jacob disease;Creutzfeldt Jacob syndrome;Creutzfeldt Jakob disease;Creutzfeldt-Jacob disease;Creutzfeldt-Jakob Disease;Creutzfeldt-Jakob Disease, Familial;Creutzfeldt-Jakob Syndrome;Familial Creutzfeldt-Jakob Disease;Jakob-Creutzfeldt disease;Spongiform Encephalopathy, Subacute;Subacute spongiform encephalopathy;classic Creutzfeldt-Jakob disease;transmissible virus dementia
Crohn's colitis	EFO_0005622	Crohn's colitis is a type of Crohn's disease that affects the large intestine.;Crohn's disease affecting the colon.	Crohn colitis;Crohn's colitis
Crohn's disease	EFO_0000384	A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.;A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.	CROHN DIS;CROHNS DIS;Colitis, Granulomatous;Crohn Disease;Crohn disease;Crohn's associated gastritis;Crohn's disease;Crohn's disease of colon;Crohn's disease of large bowel;Crohns Disease;Enteritis, Granulomatous;Enteritis, Regional;Gastritis Associated with Crohn Disease;Gastritis Associated with Crohn's Disease;Ileitis, Regional;Ileitis, Terminal;Ileocolitis;granulomatous colitis;pediatric Crohn's disease;regional enteritis
Csbwt-rescued fibroblasts	EFO_0001103	N/A	N/A
Cup-to-disc ratio measurement	EFO_0006939	Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma	N/A
Cushing syndrome	EFO_0003099	Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.;Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.	Cushing syndrome;Cushing's syndrome;Cushing's syndrome NOS;Cushing's syndrome NOS (disorder);Suprarenogenic syndrome;cortisol Excess;hyperadrenocorticism;hypercorticism;pituitary basophilism;suprarenogenic syndrome
Cutaneous follicular lymphoma	EFO_1000211	A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma). --2003	N/A
Cutaneous lupus erythematosus	EFO_0003834	A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID).;An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.	Lupus Erythematosus, Cutaneous;Lupus Erythematosus, Cutaneous, Subacute;Lupus Erythematosus, Subacute Cutaneous;cutaneous lupus erythematosus
Cutaneous melanoma	EFO_0000389	A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.;A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.	Cutaneous malignant melanoma;MAL MELANOM FACE NEC/NOS;MALIG MELANOMA SKIN NEC;MALIG MELANOMA SKIN NOS;MM - Malignant melanoma of skin;Malignant Cutaneous Melanoma;Malignant Melanoma (of Skin), Stage Unspecified;Malignant Melanoma of Skin;Malignant Melanoma of Skin Stage Unspecified;Malignant melanoma of other specified sites of skin;Malignant melanoma of other specified skin site;Malignant melanoma of other specified skin site (disorder);Malignant melanoma of skin (disorder);Malignant melanoma of skin NOS;Malignant melanoma of skin NOS (disorder);Malignant melanoma of skin of other and unspecified parts of face;Malignant melanoma of skin, NOS;Melanoma of Skin;Melanoma of skin, site unspecified;Melanoma of the Skin;Skin Melanoma;Skin, Melanoma;[X]Malignant melanoma of skin, unspecified;[X]Malignant melanoma of skin, unspecified (disorder);cancer of skin;cutaneous (skin) melanoma;cutaneous melanoma;cutaneous melanoma (disease);malignant cutaneous melanoma;malignant ear melanoma;malignant lip melanoma;malignant lower limb melanoma;malignant melanoma (of skin), stage unspecified;malignant melanoma of ear and/or external auricular canal;malignant melanoma of skin;malignant melanoma of skin of lower limb;malignant melanoma of skin of trunk except scrotum;malignant melanoma of skin of upper limb;malignant melanoma of skin stage unspecified;malignant neck melanoma;malignant scalp melanoma;malignant trunk melanoma;malignant upper limb melanoma;melanoma (disease) of zone of skin;melanoma of skin;melanoma of the skin;skin melanoma;skin, melanoma;zone of skin melanoma;zone of skin melanoma (disease)
Cutaneous squamous cell carcinoma	EFO_1001927	squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians	N/A
Cutaneous t-cell lymphoma	EFO_0002913	A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.;A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. Any of a group of T-cell non-Hodgkin lymphomas that begins in the skin as an itchy, red rash that can thicken or form a tumor. The most common types are mycosis fungoides and Sezary syndrome.	CTCL;Cutaneous T-Cell Non-Hodgkin Lymphoma;PCTCL;T-cell non-Hodgkin's lymphoma of skin;T-cell non-Hodgkin's lymphoma of the skin;cutaneous T cell lymphoma;cutaneous T-cell lymphoma;cutaneous T-cell non-Hodgkin lymphoma;cutaneous T-cell non-Hodgkin's lymphoma;primary cutaneous T-cell non-Hodgkin lymphoma;primary cutaneous T-cell non-Hodgkin's lymphoma;skin T-cell non-Hodgkin's lymphoma
C-x-c motif chemokine 10 measurement	EFO_0008056	quantification of the amount of C-X-C motif chemokine 10 in a sample	Interferon gamma-induced protein 10 measurement
C-x-c motif chemokine 5 measurement	EFO_0008058	quantification of the amount of C-X-C motif chemokine 5 in a sample	N/A
C-x-c motif chemokine 6 measurement	EFO_0008059	quantification of the amount of C-X-C motif chemokine 6 in a sample	N/A
Cyclic neutropenia	Orphanet_2686	N/A	N/A
Cystadenocarcinoma	EFO_0006387	A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.	cystadenocarcinoma;cystadenocarcinoma (morphologic abnormality);cystadenocarcinoma NOS (morphologic abnormality);cystadenocarcinoma, malignant;cytoadenocarcinoma
Cystatin c measurement	EFO_0004617	is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease.	N/A
Cystic fibrosis	Orphanet_586	Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.	CF;Mucoviscidosis
Cystic kidney disease	EFO_0008615	A congenital or acquired kidney disorder characterized by the presence of renal cysts.;A congenital or acquired kidney disorder characterized by the presence of renal cysts. [ NCI ]	Cystic Kidney Diseases;Cystic Renal Diseases;Kidney, Cystic;cystic kidney disease;kidney cyst;renal cyst
Cystic, mucinous, and serous neoplasm	EFO_1000889	Neoplasms containing cyst-like formations or producing mucin or serum.	Neoplasms, Cystic, Mucinous, and Serous;cystic, mucinous and serous neoplasm (morphologic abnormality);cystic, mucinous and serous tumor (qualifier value);cystic, mucinous, and serous neoplasm
Cystic neoplasm	MONDO_0021077	A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.	cystic neoplasm;cystic tumor
Cystitis	EFO_1000025	An acute or chronic inflammatory process affecting the bladder.;Inflammation of the urinary bladder.	bladder infection;cystitis;inflammation of urinary bladder;urinary bladder inflammation
Cytomegalovirus infection	EFO_0001062	A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.;A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.;Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.	CMV - Cytomegalovirus infection;CMV infection;CYTOMEGALIC INCLUSION DIS;CYTOMEGALOVIRAL DISEASE;CYTOMEGALOVIRUS INFECT;Cytomagalovirus infection;Cytomegalic Inclusion Diseases;Cytomegalic inclusion disease;Cytomegaloviral disease, unspecified;Cytomegaloviral disease, unspecified (disorder);Cytomegaloviral infection;Cytomegalovirus Infection;Cytomegalovirus Infections;Cytomegalovirus infection (disorder);Cytomegalovirus infection, NOS;Cytomegalovirus infectious disease;Disease due to Cytomegalovirus;Disease, Cytomegalic Inclusion;Diseases, Cytomegalic Inclusion;HCMV;HCMV infection;Human Herpesvirus 5;INCLUSION DIS;INFECT CYTOMEGALOVIRUS;Inclusion Disease;Inclusion Disease, Cytomegalic;Inclusion Diseases;Inclusion Diseases, Cytomegalic;Infection, Cytomegalovirus;Infections, Cytomegalovirus;SALIVARY GLAND VIRUS DIS;Salivary gland virus disease;[X]Cytomegaloviral disease, unspecified;[X]Cytomegaloviral disease, unspecified (disorder);cytomegalovirus infection
Cytomegalovirus retinitis	EFO_1001302	Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness.;Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.	CMV retinitis;Cytomegaloviral Retinitis;Cytomegalovirus caused retinitis;Cytomegalovirus retinitis;Retinitis, Cytomegaloviral;cytomegalovirus retinitis
Daytime rest measurement	EFO_0007828	quantification of some aspect of daytime rest such as duration, frequency or quality	N/A
D dimer measurement	EFO_0004507	A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis.	D-dimer levels;fibrin D-dimer levels;plasma D-dimer levels
Deficiency anemia	MONDO_0001639	N/A	deficiency anemias;unspecified deficiency anemia
Degeneration of macula and posterior pole	MONDO_0002175	N/A	degeneration of macula and posterior pole of retina;degeneration of macula or posterior pole
Degenerative disorder	MONDO_0024236	A disorder characterized by the progressive loss of function and/or structure of the affected tissues.	degenerative disease;degenerative disorder
Deletion 5q35	Orphanet_1627	Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects.	Distal 5q deletion;Monosomy 5qter;Telomeric 5q deletion
Delta-5 desaturase measurement	EFO_0007764	The determination of the amount of delta-5 desaturase in a sample, generally estimated as the ratio of arachidonic acid:diohomo-gamma-linolenic acid	N/A
Deltaretrovirus infections	MONDO_0021184	Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).	N/A
Dementia	HP_0000726	An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.	Amentia;Amentias;Dementia, Familial;Dementias;Dementias, Familial;Dementias, Senile Paranoid;Familial Dementia;Familial Dementias;Paranoid Dementia, Senile;Paranoid Dementias, Senile;Senile Paranoid Dementia;Senile Paranoid Dementias;progressive dementia
Demyelinating disease	MONDO_0002562	A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.	demyelinating disorder
Demyelinating hereditary motor and sensory neuropathy	MONDO_0018776	N/A	demyelinating HMSN
Demyelinating polyneuropathy	MONDO_0003334	Polyneuropathy that is characterized by demyelination of axons.	peripheral demyelinating neuropathy
Dengue disease	EFO_0005547	A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding.;Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).	DF;Dengue;Dengue Fever;Dengue fever;Dengue virus caused disease or disorder;Dengue virus disease or disorder;Dengue virus infection;Dengue virus infectious disease;break bone fever;breakbone fever;classic dengue;dengue disease
Dengue hemorrhagic fever	EFO_0004227	A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.;A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome.	DHF;Dengue Shock Syndrome;Dengue hemorrhagic fever;Hemorrhagic Dengue;Hemorrhagic Fever, Dengue;Philippine Hemorrhagic Fever;Singapore Hemorrhagic Fever;Thai Hemorrhagic Fever
Dental caries	EFO_0003819	Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification.;The decay of a tooth, in which it becomes softened, discolored, and/or porous.	CARIES DENT;Caries, Dental;DECAY DENT;DENT CARIES;DENT DECAY;DENT WHITE SPOT;DENT WHITE SPOTS;Decay, Dental;Dental Decay;Dental White Spot;Dental White Spots;Spot, White;Spots, White;WHITE SPOT DENT;WHITE SPOTS DENT;White Spot;White Spot, Dental;White Spots;White Spots, Dental;caries;dental caries;dental caries extending into pulp;dental caries of smooth surface;dental caries pit and fissure
Dental enamel hypoplasia	EFO_1001304	An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors.;Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.	dental enamel hypoplasia;enamel hypoplasia
Depressive disorder	MONDO_0002050	A melancholy feeling of sadness and despair.	depression;mental depression
Dermatitis	MONDO_0002406	An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.	eczema;inflammation of skin;inflammation of the skin;inflammation of zone of skin;skin inflammation;zone of skin inflammation
Dermatomyositis	EFO_0000398	A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.;A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6);Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.	Adult Type Dermatomyositides;Adult Type Dermatomyositis;DM;DM - Dermatomyositis;Dermatomyositides;Dermatomyositides, Adult Type;Dermatomyositis (disorder);Dermatomyositis, Adult Type;Dermatomyositis, Childhood Type;Dermatopolymyositides;Dermatopolymyositis;Dermatopolymyositis, unspecified;Dermatopolymyositis, unspecified (disorder);Polydermatomyositis;Polymyositis Dermatomyositis;Polymyositis with skin involvement;Polymyositis-Dermatomyositides;Polymyositis-Dermatomyositis;Wagner-Unverricht syndrome;[X]Dermatopolymyositis, unspecified;[X]Dermatopolymyositis, unspecified (disorder);adult dermatomyositis;dermatomyositis;dermatopolymyositis;polymyositis with skin involvement
Dermis disease	MONDO_0021154	A disease that involves the dermis.	dermis disease;dermis disease or disorder;disease of dermis;disease or disorder of dermis;disorder of dermis;other dermis disorder
Desmoid-type fibromatosis	EFO_0009907	An insidious, locally aggressive, poorly circumscribed neoplasm arising from the deep soft tissues. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern. It lacks metastatic potential.	Aggressive Fibromatosis;Deep Fibromatosis;Deep Fibromatosis/Desmoid Tumor;Desmoid Fibromatosis;Desmoid Tumor;Desmoid tumors
Developmental anomaly of metabolic origin	Orphanet_139009	N/A	N/A
Developmental defect during embryogenesis	MONDO_0019755	A disease that has its basis in the disruption of embryonic morphogenesis.	congenital malformation syndrome;developmental defect during embryogenesis;disorder of embryonic morphogenesis;embryonic morphogenesis disease;malformation syndrome;rare developmental defect during embryogenesis
Developmental disability	EFO_0003852	Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)	CHILD DEVELOPMENT DIS;CHILD DEVELOPMENT DIS SPECIFIC;Child Development Deviation;Child Development Deviations;Child Development Disorder;Child Development Disorders;Child Development Disorders, Specific;DEVELOPMENT DIS CHILD;DEVELOPMENTAL DELAY DIS;Development Deviation, Child;Development Deviations, Child;Development Disorder, Child;Development Disorders, Child;Developmental Delay Disorder;Developmental Delay Disorders;Developmental Disabilities;Deviation, Child Development;Disabilities, Developmental;Disability, Developmental;developmental disability
Developmental disorder of mental health	EFO_0005548	A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development.	developmental disorder of mental health
Diabetes mellitus	EFO_0000400	A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.;A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.	DM;DM - Diabetes mellitus;Diabetes;Diabetes NOS;Diabetes mellitus (disorder);Diabetes mellitus, NOS;diabetes;diabetes mellitus;diabetes mellitus (disease)
Diabetes mellitus type 2 associated cataract	EFO_0004596	Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism	diabetes mellitus type 2 associated cataract
Diabetic angiopathy	EFO_1000896	Diabetic angiopathy is a form of angiopathy associated with diabetic complications.;VASCULAR DISEASES that are associated with DIABETES MELLITUS.	Diabetic Angiopathies;Diabetic vascular disorder;diabetic angiopathy;diabetic peripheral angiopathy;diabetic vascular disorder
Diabetic cardiomyopathy	EFO_1001458	Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder.	N/A
Diabetic encephalopathy	MONDO_0000489	A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.	N/A
Diabetic eye disease	EFO_0009486	A group of disorders affecting the eye in patients with diabetes mellitus. It includes cataract, glaucoma, retinopathy, and blindness. [ NCI ]	N/A
Diabetic foot	EFO_1001459	A diabetic foot is a foot that exhibits any pathology that results directly from diabetes mellitus or any long-term (or "chronic") complication of diabetes mellitus. Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome.	Diabetic Feet;Diabetic Foot Ulcer
Diabetic nephropathy	EFO_0000401	Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.;Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.	DMII RENAL UNCNTRLD;DMII RENL NT ST UNCNTRLD;Diabetes with renal manifestations;Diabetes with renal manifestations (disorder);Diabetes-nephrosis syndrome;Diabetes-nephrosis syndrome (disorder);Diabetic Glomerulosclerosis;Diabetic Kidney Disease;Diabetic Kidney Diseases;Diabetic Nephropathies;Diabetic renal disease;Diabetic renal disease (disorder);Glomerulosclerosis, Diabetic;Glomerulosclerosis, Nodular;Intracapillary Glomerulosclerosis;Kidney Disease, Diabetic;Kidney Diseases, Diabetic;Kimmelstiel - Wilson disease;Kimmelstiel Wilson Disease;Kimmelstiel Wilson Syndrome;Kimmelstiel-Wilson Disease;Kimmelstiel-Wilson Syndrome;Nephropathies, Diabetic;Nephropathy, Diabetic;Nephrotic syndrome due to diabetes mellitus;Nephrotic syndrome in diabetes mellitus;Nephrotic syndrome in diabetes mellitus (disorder);Nodular Glomerulosclerosis;Renal disorder associated with diabetes mellitus;Syndrome, Kimmelstiel-Wilson;diabetic kidney disease;diabetic nephropathy
Diabetic neuropathy	EFO_1000783	A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.;Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves ( VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)	Amyotrophies, Diabetic;Amyotrophy, Diabetic;Asymmetric Polyneuropathy, Diabetic;Diabetic Amyotrophies;Diabetic Amyotrophy;Diabetic Asymmetric Polyneuropathies;Diabetic Asymmetric Polyneuropathy;Diabetic Autonomic Neuropathies;Diabetic Autonomic Neuropathy;Diabetic Mononeuropathies;Diabetic Mononeuropathy;Diabetic Mononeuropathy Simplex;Diabetic Mononeuropathy Simplices;Painful Diabetic Neuropathies;Painful Diabetic Neuropathy;diabetic neuropathies;diabetic neuropathy
Diabetic retinopathy	EFO_0003770	A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.;Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION.	Diabetic Retinopathies;Retinopathies, Diabetic;Retinopathy, Diabetic;diabetic retinopathy;retinal abnormality - diabetes-related
Dianzani autoimmune lymphoproliferative disease	Orphanet_275523	Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.	DALD
Diaphragmatic or abdominal wall malformation	MONDO_0020021	N/A	N/A
Diarrhea	HP_0002014	Abnormally increased frequency of loose or watery bowel movements.	diarrhoea
Diastolic blood pressure	EFO_0006336	The blood pressure after the contraction of the heart while the chambers of the heart refill with blood.	DIABP;diastolic pressure
Diencephalic cancer	MONDO_0002786	A cancer involving a diencephalon.	cancer of diencephalon;diencephalon cancer;malignant diencephalic neoplasm;malignant diencephalic neoplasms;malignant diencephalic tumor;malignant diencephalon neoplasm;malignant neoplasm of diencephalon;tumor of diencephalon
Diet measurement	EFO_0008111	quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load	N/A
Differentiated thyroid carcinoma	EFO_1002017	Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass and showing extensive evidence of follicular cell differentiation;Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.	differentiated Thyroid cancer;differentiated Thyroid carcinoma;differentiated Thyroid gland cancer;differentiated Thyroid gland carcinoma;differentiated thyroid carcinoma;papillary or follicular thyroid carcinoma;thyroid gland differentiated carcinoma;thyroid gland well differentiated carcinoma;well differentiated Thyroid carcinoma;well differentiated Thyroid gland carcinoma;well-differentiated Thyroid cancer;well-differentiated thyroid carcinoma
Diffuse gastric adenocarcinoma	EFO_0000402	An adenocarcinoma arising from the stomach.  Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.  Many cells contain mucin droplets, producing a signet-ring configuration.;An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.	Adenocarcinoma of Linitis Plastica Type;Adenocarcinoma of the Linitis Plastica Type;Diffuse Adenocarcinoma of Stomach;Diffuse Adenocarcinoma of the Stomach;Diffuse Stomach Adenocarcinoma;adenocarcinoma of linitis plastica type;adenocarcinoma of the linitis plastica type;carcinoma, diffuse type;carcinoma, diffuse type (morphologic abnormality);diffuse adenocarcinoma of stomach;diffuse adenocarcinoma of the stomach;diffuse gastric adenocarcinoma;diffuse stomach adenocarcinoma;diffuse type adenocarcinoma;diffuse type carcinoma;gastric diffuse adenocarcinoma;stomach diffuse type adenocarcinoma
Diffuse intrinsic pontine glioma	EFO_1000026	A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis;A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.	DIPG;diffuse intrinsic pontine glioma
Diffuse large b-cell lymphoma	EFO_0000403	A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes.  It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases.  Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma.  Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma.;Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.;Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.	DIFFUSE LARGE LYMPHOMA;DLBCL;Diffuse Histiocytic Lymphoma;Diffuse Histiocytic Lymphomas;Diffuse Large Cell Lymphoma;Diffuse Large-Cell Lymphoma;Diffuse Large-Cell Lymphomas;Diffuse, Large B-Cell, Lymphoma;Histiocytic Lymphoma;Histiocytic Lymphoma, Diffuse;Histiocytic Lymphomas;Histiocytic Lymphomas, Diffuse;LARGE LYMPHOMA;LARGE LYMPHOMA DIFFUSE;LYMPHOMA DIFFUSE LARGE;LYMPHOMA LARGE;LYMPHOMA LARGE DIFFUSE;Large Cell Lymphoma;Large Cell Lymphoma, Diffuse;Large Lymphoid Lymphoma, Diffuse;Large-Cell Lymphoma;Large-Cell Lymphoma, Diffuse;Large-Cell Lymphomas;Large-Cell Lymphomas, Diffuse;Lymphoma, Diffuse Histiocytic;Lymphoma, Diffuse Large Cell;Lymphoma, Diffuse Large-Cell;Lymphoma, Histiocytic;Lymphoma, Histiocytic, Diffuse;Lymphoma, Large B-Cell, Diffuse;Lymphoma, Large Cell;Lymphoma, Large Cell, Diffuse;Lymphoma, Large Lymphoid, Diffuse;Lymphoma, Large-Cell;Lymphoma, Large-Cell, Diffuse;Lymphomas, Diffuse Histiocytic;Lymphomas, Diffuse Large-Cell;Lymphomas, Histiocytic;Lymphomas, Large-Cell;diffuse large B-cell lymphoma;large B-cell lymphoma
Diffuse lipomatosis	EFO_1000687	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.;diffuse overgrowth of mature fat usually involves a large region of an extremity or trunk, of age usually under 2 years. It involves muscle and subcutaneous tissue, but not nerves and can recure frequently	diffuse lipomatosis
Diffuse type adenocarcinoma	MONDO_0021652	An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.	diffuse type adenocarcinoma;diffuse type carcinoma
Digestive system adenoma	EFO_1000217	A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.	GI adenoma;digestive system adenoma;digestive tract adenoma;gastrointestinal adenoma
Digestive system cancer	MONDO_0002516	A primary or metastatic malignant neoplasm involving any part of the digestive system.	GI tumor;cancer of digestive system;digestive system cancer;gastrointestinal system cancer;gastrointestinal tract cancer;malignant digestive system neoplasm;malignant gastrointestinal neoplasm;malignant gastrointestinal system neoplasm;malignant neoplasm of digestive system
Digestive system carcinoma	EFO_1000218	A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.	carcinoma of digestive system;carcinoma of the gastrointestinal system;digestive system carcinoma;gastrointestinal carcinoma;gastrointestinal carcinoma (disease);gastrointestinal system carcinoma
Digestive system disease	EFO_0000405	A disease or disorder that involves the digestive system.;Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN.;Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).;Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.	Cholera Infantum;DIGESTIVE SYSTEM DIS;DISEASES OF THE DIGESTIVE SYSTEM;Digestive System Diseases;Digestive system diseases NOS;Digestive system diseases NOS (disorder);Disease of digestive system;Disease of digestive system (disorder);Disease of digestive system, NOS;Disease, Digestive System;Disease, Gastrointestinal;Diseases, Digestive System;Diseases, Gastrointestinal;Disorder of digestive system;Disorder of digestive system (disorder);Disorder, Functional Gastrointestinal;Disorders, Functional Gastrointestinal;Functional Gastrointestinal Disorder;Functional Gastrointestinal Disorders;Functional digestive disorders, not elsewhere classified;GASTROINTESTINAL DIS;GIT diseases;Gastrointestinal Disease;Gastrointestinal Diseases;Gastrointestinal Disorder, Functional;Gastrointestinal Disorders, Functional;Gastrointestinal and digestive disorder;Infantum, Cholera;OTHER DISEASES OF DIGESTIVE SYSTEM;OTHER DISEASES OF INTESTINES AND PERITONEUM;Other diseases of the intestines and peritoneum;Other diseases of the intestines and peritoneum (disorder);Other disorders of gallbladder;Other disorders of intestine;Other disorders of intestine (disorder);Other gallbladder disorders;Other gallbladder disorders (disorder);Other gallbladder disorders NOS;Other gallbladder disorders NOS (disorder);Other intestinal disorders NOS;Other intestinal disorders NOS (disorder);Other intestine disorders;Other postoperative functional disorders;Other specified disorders of rectum and anus;POSTOP GI FUNCT DIS NEC;Pilosebaceous Nevoid disorder;RECTAL & ANAL DIS NEC;System Disease, Digestive;System Diseases, Digestive;[X]Other diseases of intestines;[X]Other diseases of intestines (disorder);[X]Other diseases of the digestive system;[X]Other diseases of the digestive system (disorder);[X]Other specified diseases of anus and rectum;[X]Other specified diseases of anus and rectum (disorder);acne nevus;alimentary system disease;digestive disease;digestive system disease;digestive system disease or disorder;digestive system disorder;disease of digestive system;disease or disorder of digestive system;disorder of digestive system;gastroenterological system disease;gastroenterological system disorder;gastroenteropathy;gastrointestinal disease;gastrointestinal disorder;gastrointestinal system disease;gastrointestinal system disorder;git disease;intestinal disease;intestinal diseases;nevus comedonicus (disorder);stomach or intestinal disorder
Digestive system infectious disease	MONDO_0043424	A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.	digestive system infection;gastrointestinal infection;gastrointestinal system infection
Digestive system neoplasm	EFO_0008549	A benign or malignant neoplasm involving any part of the digestive system.;A neoplasm (disease) that involves the digestive system.	Digestive Neoplasm;Digestive System Neoplasm;Digestive System Tumor;Digestive Tumor;GI Neoplasm;GI System Neoplasm;GI System Tumor;GI Tumor;GI neoplasm;GI system neoplasm;GI system tumor;GI tumor;Gastrointestinal Neoplasm;Gastrointestinal System Neoplasm;Gastrointestinal System Tumor;Gastrointestinal Tumor;Neoplasm of Digestive System;Neoplasm of GI System;Neoplasm of Gastrointestinal System;Neoplasm of the Digestive System;Neoplasm of the GI System;Neoplasm of the Gastrointestinal System;Tumor of Digestive System;Tumor of GI System;Tumor of Gastrointestinal System;Tumor of the Digestive System;Tumor of the GI System;Tumor of the Gastrointestinal System;digestive neoplasm;digestive system neoplasm;digestive system neoplasm (disease);digestive system tumor;digestive tumor;gastrointestinal neoplasm;gastrointestinal system neoplasm;gastrointestinal system tumor;gastrointestinal tumor;neoplasm of GI system;neoplasm of digestive system;neoplasm of gastrointestinal system;neoplasm of the GI system;neoplasm of the digestive system;neoplasm of the gastrointestinal system;tumor of GI system;tumor of digestive system;tumor of gastrointestinal system;tumor of the GI system;tumor of the digestive system;tumor of the gastrointestinal system
Digestive system neuroendocrine neoplasm	MONDO_0024503	A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).	alimentary part of gastrointestinal system NET;alimentary part of gastrointestinal system neuroendocrine neoplasm;alimentary part of gastrointestinal system neuroendocrine tumor;alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade;digestive system neuroendocrine neoplasm;gastrointestinal neuroendocrine neoplasm;gastrointestinal system neuroendocrine neoplasm;neuroendocrine neoplasm of alimentary part of gastrointestinal system
Digestive system neuroendocrine tumor, grade 1/2	MONDO_0000386	A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.	Gastroenteropancreatic NET;Gastroenteropancreatic Neuroendocrine tumor;alimentary part of gastrointestinal system neuroendocrine tumor;digestive system NET;digestive system neuroendocrine tumor;digestive system well differentiated Neuroendocrine tumor;gastrointestinal NET;gastrointestinal neuroendocrine tumor;gastrointestinal system neuroendocrine tumor
Dihydroxy docosatrienoic acid measurement	EFO_0005275	the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure	N/A
Dilated cardiomyopathy 3b	MONDO_0010542	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.	CMD3B;DMD dilated cardiomyopathy;cardiomyopathy, dilated, type 3B;dilated cardiomyopathy caused by mutation in DMD;dilated cardiomyopathy type 3B
Dilated cardiomyopathy	EFO_0000407	A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.;An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.;Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.;decreased function of the heart associated with cardiac enlargement and congestive heart failure	CCM - Congestive cardiomyopathy;COCM - Congestive cardiomyopathy;Cardiomyopathies, Congestive;Cardiomyopathies, Dilated;Cardiomyopathies, Familial Idiopathic;Cardiomyopathy, Congestive;Cardiomyopathy, Dilated;Cardiomyopathy, Dilated, CMD1A;Cardiomyopathy, Dilated, LMNA;Cardiomyopathy, Dilated, with Conduction Deffect1;Cardiomyopathy, Familial Idiopathic;Congestive Cardiomyopathies;Congestive cardiomyopathy;Congestive cardiomyopathy (disorder);Congestive dilated cardiomyopathy;DCM;DCM - Dilated cardiomyopathy;Dilated Cardiomyopathies;Familial Idiopathic Cardiomyopathies;Familial Idiopathic Cardiomyopathy;Idiopathic Cardiomyopathies, Familial;Idiopathic Cardiomyopathy, Familial;Primary dilated cardiomyopathy;dilated cardiomyopathy;primary dilated cardiomyopathy (disorder)
Dilated cardiomyopathy	HP_0001644	Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.	Cardiomyopathy, dilated;Congestive cardiomyopathy
Disease by anatomical system	MONDO_0021199	A disease that disrupts the functioning of an organ system.	anatomical system disease;disease of anatomical system
Disease by cell type	MONDO_0044979	N/A	N/A
Disease by cellular component affected	MONDO_0021197	N/A	N/A
Disease by cellular process disrupted	MONDO_0021195	N/A	N/A
Disease by molecular activity disrupted	MONDO_0021196	N/A	N/A
Disease by subcellular system affected	MONDO_0021194	A grouping of diseases based on molecular activity, cellular process or subcellular component.	N/A
Disease name	Disease ontology	N/A	N/A
Disease of bone structure	MONDO_0000836	N/A	N/A
Disease of catalytic activity	MONDO_0044976	N/A	enzyme disorder;enzymopathy
Disease of central nervous system or retinal vasculature	MONDO_0020676	N/A	central nervous system or retinal vascular disease;retina/CNS vascular disease
Disease of ear	MONDO_0021205	A disease that involves the ear.	Ear disease;Ear disorder;disease of ear;disease or disorder of ear;disorder of ear;ear disease;ear disease or disorder
Disease of facial skeleton	MONDO_0023369	A disease that involves the facial skeleton.	disease of facial skeleton;disease or disorder of facial skeleton;disorder of facial skeleton;facial skeleton disease;facial skeleton disease or disorder;maxillo-facial disease;maxillofacial anomaly
Disease of genitourinary system	EFO_0009663	A disease that involves the genitourinary system.;A disease that involves the genitourinary system. [database_cross_reference: MONDO:patterns/location]	disease of genitourinary system;disease or disorder of genitourinary system;disorder of genitourinary system;disorder of the genitourinary system;genitourinary system disease;genitourinary system disease or disorder
Disease of macromolecular complex	MONDO_0044971	N/A	N/A
Disease of membrane bound organelle	MONDO_0044969	N/A	N/A
Disease of orbital region	EFO_0009664	A disease that involves the orbital region.;A disease that involves the orbital region. [database_cross_reference: MONDO:patterns/location]	disease of orbital region;disease or disorder of orbital region;disorder of eye region;disorder of orbital region;orbital region disease;orbital region disease or disorder
Disease of peritoneum	EFO_0009541	A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	disease of peritoneum;disease or disorder of peritoneum;disorder of peritoneum;peritoneal disease;peritoneal disorder;peritoneum disease;peritoneum disease or disorder
Disease of pharynx	MONDO_0020592	A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.	chordate pharynx disease;chordate pharynx disease or disorder;disease of chordate pharynx;disease or disorder of chordate pharynx;disorder of chordate pharynx;pharyngeal disease;pharyngeal disorder
Disease of pilosebaceous unit	MONDO_0002917	A disease that involves the pilosebaceous unit.	disease of pilosebaceous unit;disease or disorder of pilosebaceous unit;disorder of pilosebaceous unit;hair and hair follicle diseases;hair disorder;hair/hair follicle diseases;pilosebaceous unit disease;pilosebaceous unit disease or disorder
Disease of receptor activity	MONDO_0044977	N/A	N/A
Disease of retroperitoneum	MONDO_0020595	A disease or disorder that involves the retroperitoneal space.	disease of retroperitoneal space;disease or disorder of retroperitoneal space;disorder of retroperitoneal space;retroperitoneal disease;retroperitoneal disorder;retroperitoneal space disease;retroperitoneal space disease or disorder
Disease of signal transduction	MONDO_0044980	N/A	N/A
Disease of supramolecular complex	MONDO_0044974	N/A	N/A
Disease of transporter activity	MONDO_0044975	N/A	N/A
Disease of visual system	MONDO_0024458	A disease that involves the visual system.	disease of visual system;disease or disorder of visual system;disorder of visual system;visual system disease;visual system disease or disorder;visual system disorder
Disease with cushing syndrome as a major feature	MONDO_0017820	A disease in which Cushing syndrome is a major feature.	rare disease with Cushing syndrome as a major feature
Disease with focal palmoplantar keratoderma as a major feature	Orphanet_307871	N/A	Disease with focal palmoplantar hyperkeratosis as a major feature
Disorder by anatomical region	MONDO_0024505	A broad grouping of diseases based on major body subdivisions.	N/A
Disorder involving pain	MONDO_0021668	N/A	pain disorder
Disorder of amino acid and other organic acid metabolism	Orphanet_79062	N/A	N/A
Disorder of carbohydrate metabolism	Orphanet_79161	N/A	N/A
Disorder of development or morphogenesis	MONDO_0021147	Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.	N/A
Disorder of energy metabolism	Orphanet_79200	N/A	N/A
Disorder of galactose metabolism	Orphanet_308467	N/A	N/A
Disorder of lacrimal gland	MONDO_0024625	A disease that involves the lacrimal gland.	disease of lacrimal gland;disease or disorder of lacrimal gland;disorder of lacrimal gland;lacrimal gland disease;lacrimal gland disease or disorder
Disorder of lipid metabolism	Orphanet_309005	N/A	N/A
Disorder of organic acid metabolism	MONDO_0045022	A disease that has its basis in the disruption of organic acid metabolic process.	disorder of organic acid metabolic process;disorder of organic acid metabolism;organic acid metabolic process disease;organic acid metabolism disorder
Disorder of phenylalanine metabolism	Orphanet_284814	N/A	N/A
Disorder of phenylalanin or tyrosine metabolism	Orphanet_79190	N/A	N/A
Disorder of purine metabolism	Orphanet_79191	N/A	N/A
Disorder of purine or pyrimidine metabolism	Orphanet_79224	N/A	N/A
Disorder of tyrosine metabolism	Orphanet_284818	N/A	N/A
Disseminated cryptosporidium infection	HP_0031699	Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.	N/A
Distal 22q11.2 microdeletion syndrome	Orphanet_261330	Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.	Distal del(22)(q11.2);Distal monosomy 22q11.2
Distal myopathy	Orphanet_599	Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.	Miyoshi muscular dystrophy;distal muscular dystrophy;distal myopathy
Dna methylation	GO_0006306	The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine	N/A
Dna repair defect other than combined t-cell and b-cell immunodeficiencies	Orphanet_169346	N/A	N/A
Dna repair deficiency	EFO_0008499	A disease that has its basis in the disruption of DNA repair.;DNA repair deficiency refers to any mutation in the repair mechanisms that leads to accumulation of DNA errors and carcinogenesis.	DNA repair disease;DNA repair disorder;deficiency of DNA repair;disorder of DNA repair
Docosahexaenoic acid measurement	EFO_0007761	The determination of the amount of docosahexaenoic acid present in a sample.	N/A
Docosapentaenoic acid measurement	EFO_0006809	The determination of the amount of docosapentaenoic acid present in a sample.	N/A
Down syndrome	EFO_0001064	A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004;A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213);A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia);Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	Complete trisomy 21 syndrome;Complete trisomy 21 syndrome (disorder);DOWN'S SYNDROME;Down Syndrome, Partial Trisomy 21;Down syndrome;Down's syndrome;Down's syndrome - trisomy 21;Down's syndrome NOS;Down's syndrome NOS (disorder);Downs Syndrome;Downs syndrome;G Trisomy;G trisomy;Mongolism;Partial Trisomy 21 Down Syndrome;Syndrome, Down;Syndrome, Down's;T21 - Trisomy 21;Trisomy 21;Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome;Trisomy 21 NOS;Trisomy 21, Meiotic Nondisjunction;Trisomy 21, Mitotic Nondisjunction;complete trisomy 21 syndrome;down syndrome;trisomy 21;trisomy 21 (Down syndrome);trisomy 21 syndrome
Drug dependence	EFO_0003890	Disorders related to drug abuse, the side effects of a medication, or toxin exposure.;Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.	Abuse, Drug;Addiction, Drug;DRUG USE DIS;Dependence, Drug;Disorder, Drug Use;Drug Abuse;Drug Addiction;Drug Habituation;Drug Usage;Drug Use Disorder;Drug Use Disorders;Habituation, Drug;Usage, Drug;chemical dependence;drug dependence
Drug-induced liver injury	EFO_0004228	A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.;A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.	Drug-Induced Liver Disease;Hepatitis, Drug-Induced;Hepatitis, Toxic;Liver Injury, Drug-Induced;Toxic Hepatitis;drug-induced liver injury
Drug-induced mental disorder	MONDO_0001423	N/A	N/A
Duchenne and becker muscular dystrophy	Orphanet_262	Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	Severe dystrophinopathy, Duchenne and Becker type
Duchenne muscular dystrophy	Orphanet_98896	Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.	DMD;Severe dystrophinopathy, Duchenne type
Ductal adenocarcinoma	EFO_0000430	A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.;A carcinoma arising from the ducts.  Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified.  The latter often spreads to the axillary lymph nodes and other anatomic sites.  The two forms of ductal carcinoma often coexist.	Duct Adenocarcinoma;Duct Carcinoma;Ductal Breast Carcinoma;Ductal Carcinoma;Invasive ductal carcinoma, NST;breast ductal adenocarcinoma;breast ductal carcinoma;duct adenocarcinoma;duct carcinoma;ductal adenocarcinoma;ductal breast adenocarcinoma;ductal breast carcinoma;ductal carcinoma;ductal carcinoma of breast;ductal carcinoma of the breast;mammary duct adenocarcinoma
Ductal carcinoma in situ	EFO_0000432	A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.;A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. 	DCIS;Ductal Breast Carcinoma In Situ;carcinoma in situ of breast;carcinoma in situ of mammary duct;ductal breast carcinoma in situ;ductal carcinoma in situ;ductal carcinoma in situ (DCIS);ductal carcinoma in situ of breast;ductal carcinoma in situ of the breast;intraductal breast carcinoma;intraductal carcinoma;intraductal carcinoma of breast;intraductal carcinoma of the breast;mammary duct carcinoma in situ;mammary duct in situ carcinoma;non-infiltrating ductal adenocarcinoma of breast;non-infiltrating ductal adenocarcinoma of the breast;non-infiltrating ductal breast adenocarcinoma;non-infiltrating ductal breast carcinoma;non-infiltrating ductal carcinoma of breast;non-infiltrating ductal carcinoma of the breast;non-infiltrating intraductal adenocarcinoma;non-infiltrating intraductal adenocarcinoma of breast;non-infiltrating intraductal adenocarcinoma of the breast;non-infiltrating intraductal breast adenocarcinoma;non-infiltrating intraductal carcinoma;non-invasive ductal adenocarcinoma of breast;non-invasive ductal adenocarcinoma of the breast;non-invasive ductal breast adenocarcinoma;non-invasive ductal breast carcinoma;non-invasive ductal carcinoma of breast;non-invasive ductal carcinoma of the breast;non-invasive intraductal adenocarcinoma of breast;non-invasive intraductal adenocarcinoma of the breast;non-invasive intraductal breast adenocarcinoma;stage 0 mammary duct carcinoma
Duodenal adenocarcinoma	EFO_1000223	A carcinoma that arises from glandular epithelial cells of the duodenum.;An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	adenocarcinoma of duodenum;adenocarcinoma of the duodenum;duodenal adenocarcinoma;duodenum adenocarcinoma
Duodenal disease	MONDO_0002866	Pathological conditions in the duodenum region of the small intestine (intestine, small).	disease of duodenum;disease or disorder of duodenum;disorder of duodenum;duodenum disease;duodenum disease or disorder;duodenum disorder
Duodenal ulcer	EFO_0004607	A peptic ulcer arising in the small intestine.;An ulcer in the duodenal wall.	curling Ulcer;curling's ulcers;duodenal ulcer;duodenal ulcer (disease);stress Ulcer
Duodenum cancer	MONDO_0000920	A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.	cancer of duodenum;duodenal cancer;duodenal neoplasm;duodenum cancer;malignant duodenal neoplasm;malignant duodenal tumor;malignant duodenum neoplasm;malignant neoplasm of duodenum;malignant neoplasm of the duodenum;malignant tumor of duodenum;malignant tumor of the duodenum
Dupuytren contracture	EFO_0004229	A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50.	Dupuytren's Contracture;Dupuytren's Disease
Dynein light chain roadblock-type 1 measurement	EFO_0008114	quantification of the amount of dynein light chain roadblock-type 1 in a sample	N/A
Dysgammaglobulinemia (disease)	MONDO_0001342	An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.	dysgammaglobulinemia;dysgammaglobulinemia (finding)
Dyskeratosis congenita	Orphanet_1775	Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.	DC;DKC;Zinsser-Engman-Cole syndrome
Dysostosis	MONDO_0018234	A disorder of the development of bone in which ossification is affected.	dysostosis
Dysostosis of genetic origin	Orphanet_404568	N/A	N/A
Dysostosis of genetic origin with limb anomaly as a major feature	Orphanet_404571	N/A	N/A
Dysostosis with limb anomaly as a major feature	MONDO_0018235	N/A	N/A
Dystonic disorder	MONDO_0003441	A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.	dystonia;dystonic disease;dystonic disorder
Early cardiac repolarization measurement	EFO_0004885	Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads.	N/A
Early-onset ataxia with dementia	Orphanet_98539	N/A	N/A
Ear protrusion	EFO_0007665	the physical distance from the outer edge of the outer ear to the head	outer ear prominence
Eating disorder	EFO_0005203	A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.;A group of disorders characterized by physiological and psychological disturbances in appetite or food intake.	eating disorder
Ebola hemorrhagic fever	EFO_0007243	A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.;A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.	EHF;Ebola;Ebola fever;Ebola hemorrhagic fever;Ebola virus disease;Ebolavirus caused disease or disorder;Ebolavirus disease or disorder;Ebolavirus infectious disease;Hemorrhagic Fever, Ebola
Eclampsia	HP_0100601	An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.	N/A
Economic and social preference	EFO_0004827	Human economic and social preferences determined by application of a survey or questionnaire.	N/A
Ectodermal dysplasia syndrome	Orphanet_79373	The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.	Ectodermal dysplasia
Ectopic pregnancy	HP_0031456	A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).	N/A
Eczema	HP_0000964	Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.	Eczema
Ehrlich tumor carcinoma	EFO_1000913	A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.	Carcinoma, Ehrlich Tumor;Ehrlich tumor carcinoma;Ehrlich's tumor
Eicosapentaenoic acid measurement	EFO_0007760	The determination of the amount of eicosapentaenoic acid present in a sample.	icosapentaenoic acid measurement
Electroclinical syndrome	MONDO_0000411	An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.	electro-clinical syndrome
Embryonal carcinoma	EFO_0004986	A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).;Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).	carcinoma, embryonal, malignant;embryonal carcinoma
Embryonal neoplasm	EFO_0005784	 mass of rapidly growing cells that begins in embryonic (fetal) tissue. Embryonal tumors may be benign or malignant, and include neuroblastomas and Wilms tumors;A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003	embryo neoplasm;embryonal neoplasm;embryonal tumor;embryonal tumour
Embryonal rhabdomyosarcoma	EFO_0000437	A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188);A poorly circumscribed morphologic variant of rhabdomyosarcoma.  It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.  There are three histologic types, spindle cell, botryoid and anaplastic.;A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.	Botryoid sarcoma;ERMS;Embryonal Rhabdomyosarcomas;Embryonal rhabdomyosarcoma (disorder);Embryonal rhabdomyosarcoma (morphologic abnormality);Embryonal rhabdomyosarcoma, pleomorphic;Rhabdomyosarcoma, Embryonal;Rhabdomyosarcomas, Embryonal;Sarcoma botryoides;embryonal rhabdomyosarcoma;embryonal rhabdomyosarcoma (disease);rhabdomyosarcoma, embryonal, type 1
Embryonal tumor of neuroepithelial tissue	MONDO_0016708	N/A	N/A
Emotional symptom measurement	EFO_0007803	quantification of some aspect of emotional problem symptoms, such as their existence and severity, usually via a standardised questionnaire such as the emotional symptoms subscale of the Strengths and Difficulties Questionnaire or interview with a qualified mental health professional	N/A
Emphysema	EFO_0000464	A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.	EMPHYSEMA, PULMONARY;Pulmonary Emphysema;emphysema;emphysema, pulmonary;pulmonary emphysema
Emphysema imaging measurement	EFO_0007626	Quantification of some aspect, eg the presence/absence or severity of emphysema through the use of imaging techniques such as CT scans	N/A
Encephalitis	MONDO_0019956	An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.	brain inflammation
Encephalomalacia	EFO_1000915	Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.;Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)	Encephalomalacia;Encephalomalacia (disorder);encephalomalacia
Encephalomyelitis	EFO_0001423	A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature.;Inflammation of the brain and the spinal cord.	ENCEPH INFLAMM;Encephalitis &/or myelitis;Encephalitis/myelitis NOS;Encephalitis/myelitis NOS (disorder);Encephalomyelitis (disorder);Encephalomyelitis NOS;Encephalomyelitis NOS (disorder);Encephalomyelitis, Inflammatory;Encephalomyelitis, NOS;INFLAMM ENCEPH;Inflammatory Encephalomyelitis;MYELOENCEPH;Myeloencephalitides;Myeloencephalitis;central nervous system inflammation;encephalitis;encephalitis &/or myelitis;encephalitis and/or myelitis;encephalomyelitis;inflammation of central nervous system
Encephalopathy, bovine spongiform	MONDO_0025149	A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)	N/A
Endocrine alopecia	MONDO_0021208	N/A	N/A
Endocrine neoplasm	EFO_0003769	A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.;Tumors or cancer of the ENDOCRINE GLANDS.	Cancer of Endocrine Gland;Cancer of the Endocrine Gland;Cancer, Endocrine;Cancer, Endocrine Gland;Cancers, Endocrine;Carcinoma of Endocrine Gland;Carcinoma, Endocrine Gland;ENDOCRINE GLAND NEOPL;Endocrine Cancer;Endocrine Cancers;Endocrine Gland Cancer;Endocrine Gland Carcinoma;Endocrine Gland Neoplasm;Endocrine Gland Neoplasms;NEOPL ENDOCRINE GLAND;Neoplasm, Endocrine Gland;Neoplasms, Endocrine Gland;endocrine gland neoplasm;endocrine gland neoplasm (disease);endocrine gland tumor;endocrine neoplasm;endocrine system neoplasm;endocrine system tumor;endocrine tumor;neoplasm of endocrine gland;tumor of endocrine gland
Endocrine pancreas disease	MONDO_0001933	A disease involving the endocrine pancreas.	disease of endocrine pancreas;disease or disorder of endocrine pancreas;disorder of endocrine pancreas;endocrine pancreas disease;endocrine pancreas disease or disorder;endocrine pancreas disorder
Endocrine system disease	EFO_0001379	A disease involving the endocrine system.;Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs.;Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.	DIS ENDOCRINE SYSTEM;Disease of endocrine gland;Disease, Endocrine;Disease, Endocrine System;Diseases of Endocrine System;Diseases, Endocrine;Diseases, Endocrine System;Disorder of endocrine gland;Disorder of endocrine system;Disorder of endocrine system (disorder);ENDOCRINE DIS;ENDOCRINE DISORDER NOS;ENDOCRINE DISORDERS;ENDOCRINE SYSTEM DIS;Endocrine Diseases;Endocrine Diseases and Manifestations;Endocrine System Diseases;Endocrine System Disorder;Endocrine disease;Endocrine disorder;Endocrine disorder NOS (disorder);Endocrine disturbance;Endocrine disturbance NOS;Endocrine disturbance NOS (disorder);Endocrine gland disease NOS;Endocrine gland disease NOS (disorder);Endocrinopathy;Endocrinopathy, NOS;Hormone abnormality;Hormone abnormality (finding);Hormone disorders;Hormone disturbance;Hormone disturbance NOS;System Disease, Endocrine;System Diseases, Endocrine;Unspecified endocrine disorder;disease of endocrine system;disease or disorder of endocrine system;disorder of endocrine system;endocrine disease;endocrine disorder;endocrine system disease;endocrine system disease or disorder;endocrine system disorder;endocrinopathy;thyroid or other glandular disorders
Endometrial cancer	MONDO_0011962	Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).	cancer of endometrium;endometrial Ca;endometrial cancer;endometrium cancer;malignant endometrial neoplasm;malignant endometrium neoplasm;malignant neoplasm of endometrium;primary malignant neoplasm of endometrium
Endometrial carcinoma	EFO_1001512	A endometrial cancer that is located_in the tissue lining the uterus.;A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.	carcinoma of endometrium;carcinoma of the Endometrium;carcinoma of the endometrium;carcinoma, endometrial, malignant;endometrial cancer;endometrial carcinoma;endometrial carcinoma (disease);endometrioid carcinoma;endometrioid carcinoma of female reproductive system;endometrium carcinoma
Endometrial disease	MONDO_0000931	A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.	disease of endometrium;disease or disorder of endometrium;disorder of endometrium;endometrial disorder;endometrium disease;endometrium disease or disorder
Endometrial endometrioid adenocarcinoma	EFO_1000233	A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.;A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. -- 2004	endometrial endometrioid adenocarcinoma;endometrioid adenocarcinoma of endometrium;endometrioid adenocarcinoma of the endometrium;endometrioid carcinoma of endometrium;endometrioid carcinoma of the endometrium;endometrioid endomet. adenocar.;endometrioid endometrial adenocarcinoma;uterine corpus endometrioid adenocarcinoma;uterine corpus endometrioid carcinoma
Endometrial endometrioid carcinoma	EFO_1001514	endometrioid carcinoma located in the lining of the uterus	N/A
Endometrial neoplasm	EFO_0004230	Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells.	endometrial neoplasms;ovarian endometrioid neoplasm
Endometrial serous adenocarcinoma	EFO_1000238	A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.	endometrial serous adenocarcinoma;serous endometrial adenocarcinoma;uterine corpus serous adenocarcinoma;uterine papillary serous carcinoma;uterine serous adenocarcinoma;uterine serous carcinoma;uterine serous papillary adenocarcinoma
Endometrial stromal sarcoma	EFO_1000919	A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS).;A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.	ESS;Sarcoma, Endometrial Stromal;Undifferentiated endometrial sarcoma;endometrial stromal sarcoma;endometrial stromal sarcoma, high grade;endometrial stromal sarcomas;endometrioid stromal sarcoma;ess;sarcomas, endometrial stromal;stromal sarcoma of the corpus uteri;stromal sarcoma, endometrial;stromal sarcoma, endometrial, malignant;stromal sarcomas, endometrial;undifferentiated endometrial sarcoma
Endometrial stromal tumor	EFO_1000920	Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL).;Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).	Endometrial Stromal Tumors;endometrial Stromal neoplasm;endometrial stroma neoplasm;endometrial stroma tumor;endometrial stromal neoplasm;endometrial stromal tumor;endometrial stromal tumor (morphologic abnormality);neoplasm of endometrial stroma;tumor of endometrial stroma
Endometrioid carcinoma	EFO_0000466	An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.;An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.	Adenocarcinoma, Endometrioid;Adenocarcinomas, Endometrioid;Carcinoma, Endometrioid;Carcinomas, Endometrioid;Endometrioid Adenocarcinomas;Endometrioid Carcinoma of the Female Reproductive System;Endometrioid Carcinomas;Endometrioid adenocarcinoma;Endometrioid carcinoma (morphologic abnormality);Endometrioid cystadenocarcinoma;Female Reproductive Endometrioid Carcinoma;endometrioid adenocarcinoma;endometrioid carcinoma;endometrioid carcinoma of female Reproductive system;endometrioid carcinoma of female reproductive system;endometrioid carcinoma of the female reproductive system;female reproductive endometrioid carcinoma
Endometrioid tumor	MONDO_0002480	A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	endometrioid neoplasm;endometrioid neoplasm of female reproductive system;endometrioid neoplasm of the female reproductive system;endometrioid tumor;endometrioid tumor (morphologic abnormality);endometrioid tumor of female reproductive system;endometrioid tumor of the female reproductive system;female reproductive endometrioid neoplasm;female reproductive endometrioid tumor
Endometriosis	EFO_0001065	The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.	ENDOMETRIOSIS NEC;Endometriosis (clinical);Endometriosis (disorder);Endometriosis (morphologic abnormality);Endometriosis NOS;Endometriosis NOS (disorder);Endometriosis of other specified sites;Endometriosis, site unspecified;endometriosis;endometriosis (disease)
Endometritis	EFO_1001312	An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.;Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever.	endometritis;endometrium inflammation;inflammation of endometrium;uterine infection
Endometrium adenocarcinoma	EFO_0005232	An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.	Adenocarcinoma of Endometrium;Adenocarcinoma of the Endometrium;Endometrial Adenocarcinoma;adenocarcinoma of endometrium;adenocarcinoma of the endometrium;adenocarcinoma of uterus;adenocarcinoma, endometrial, malignant;endometrial adenoacanthoma;endometrial adenocarcinoma;endometrial endometrioid adenocarcinoma with squamous differentiation;endometrioid adenoma or carcinoma;endometrioid adenoma or carcinoma NOS (morphologic abnormality);endometrioid adenomas and carcinomas;endometrioid adenomas and carcinomas (morphologic abnormality);endometrioid carcinoma of endometrium;endometrium adenocarcinoma
Endometrium neoplasm	MONDO_0021251	A neoplasm (disease) that involves the endometrium.	endometrial neoplasm;endometrial tumor;endometrium neoplasm (disease);endometrium tumor;neoplasm of endometrium;neoplasm of the endometrium;tumor of endometrium;tumor of the endometrium
Endomyocardial fibrosis	EFO_1000921	A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).;A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.	(Becker's disease) or (obscure African cardiomyopathy);African endomyocardial fibrosis;Becker's disease;Endomyocardial Fibrosis;Endomyocardial sclerosis;Obscure African cardiomyopathy (disorder);endomyocardial fibrosis;endomyocardial sclerosis;obscure African cardiomyopathy
Endophthalmitis	MONDO_0016047	An infectious process affecting the internal structures of the eye.	N/A
Endothelial dysfunction	EFO_1001461	In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium (the inner lining of blood vessels) and can be broadly defined as an imbalance between vasodilating and vasoconstricting substances produced by (or acting on) the endothelium. Normal functions of endothelial cells include mediation of coagulation, platelet adhesion, immune function and control of volume and electrolyte content of the intravascular and extravascular spaces.	N/A
Energy expenditure	EFO_0005109	energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity	N/A
Energy expenditure measurement	EFO_0008005	quantification of an individual's energy expenditure, generally considered to be the sum of internal heat produced and external work through physical activity	N/A
Energy intake	EFO_0003939	Total number of calories taken in daily whether ingested or by parenteral routes.	Caloric Intake
Enterocolitis	EFO_1001481	An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.;Enterocolitis or coloenteritis is an inflammation of the digestive tract, involving enteritis of the small intestine and colitis of the colon. It may be caused by various infections, with bacteria, viruses, fungi, parasites, or other causes. Common clinical manifestations of enterocolitis are frequent diarrheal defecations, with or without nausea, vomiting, abdominal pain, fever, chills, alteration of general condition. General manifestations are given by the dissemination of the infectious agent or its toxins throughout the body, or – most frequently – by significant losses of water and minerals, the consequence of diarrhea and vomiting.	coloenteritis;enterocolitis;enterocolitis (disease)
Enterovirus infectious disease	EFO_0007255	A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food.;An disease caused by infection with Enterovirus.	Enterovirus Infections;Enterovirus caused disease or disorder;Enterovirus disease or disorder;Enterovirus infectious disease;disease due to enterovirus;enterovirus infectious disease
Environmental stress	EFO_0000470	Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime	EnvironmentalStress
Eosinophil count	EFO_0004842	Is a quantification of eosinphils in blood.;The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.	blood eosinophil count
Eosinophilic esophagitis	EFO_0004232	Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens.;Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).	EoE;chronic esophagitis, eosinophilic;eosinophilic esophagitis
Eosinophilic gastrointestinal disease	MONDO_0018438	N/A	EGID;primary eosinophilic gastrointestinal disease
Eosinophil percentage of granulocytes	EFO_0007996	A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage.	N/A
Eosinophil percentage of leukocytes	EFO_0007991	A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes.	blood eosinophil count to total leukocyte count ratio;eosinophil count as percentage of total white blood cells;eosinophil count to total WBC count ratio;eosinophil percentage;eosinophil percentage of white cells
Eotaxin measurement	EFO_0008122	quantification of the amount of eotaxin in a sample	N/A
Ependymal neoplasm	EFO_1000027	A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma.;A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)	ependymal neoplasm;ependymal tumor;ependymal tumors
Ependymoma	EFO_1000028	A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes.;A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)	WHO Grade II Ependymal Neoplasm;ependymoma
Epicanthal fold	Orphanet_98573	N/A	N/A
Epidermal appendage anomaly	MONDO_0019277	N/A	N/A
Epidermal appendage tumor	MONDO_0002297	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	Epidermal appendage neoplasm;Epidermal appendage tumor;adnexal neoplasm of skin;adnexal neoplasm of the skin;adnexal tumor of skin;adnexal tumor of the skin;cutaneous adnexal neoplasm;cutaneous appendage neoplasm;cutaneous appendage neoplasm (disease);cutaneous appendage tumor;neoplasm of Epidermal appendage;neoplasm of cutaneous appendage;neoplasm of skin appendage;neoplasm of skin with adnexal differentiation;neoplasm of the skin appendage;skin appendage neoplasm;skin appendage tumor;skin appendage tumour;tumor of Epidermal appendage;tumor of cutaneous appendage;tumor of skin appendage;tumor of the skin appendage
Epilepsia partialis continua	EFO_1000924	A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319);A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)	Epilepsia Partialis Continua;epilepsia partialis continua
Epilepsy and/or ataxia with myoclonus as major feature	Orphanet_306756	N/A	N/A
Epilepsy	EFO_0000474	A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.;A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).;A disorder characterized by recurrent seizures	EF - Epileptic fit;EP - Epilepsy;EPILEP NEC W/O INTR EPIL;EPILEP NOS W/O INTR EPIL;EPILEPSY NEC W INTR EPIL;EPILEPSY NOS W INTR EPIL;Epilectic attack, NOS;Epilepsy (disorder);Epilepsy NOS;Epilepsy NOS (disorder);Epilepsy and recurrent seizures;Epilepsy, NOS;Epilepsy, unspecified;Epilepsy, unspecified, with intractable epilepsy;Epilepsy, unspecified, without mention of intractable epilepsy;Epileptic;Epileptic Seizure;Epileptic attack;Epileptic attack, NOS;Epileptic convulsions;Epileptic convulsions, NOS;Epileptic disorder;Epileptic disorder, NOS;Epileptic fit;Epileptic fits;Epileptic fits, NOS;Epileptic seizure (finding);Epileptic seizures;Epileptic seizures, NOS;Generalised convulsion;Generalised fit;Generalised seizure;Generalized convulsion;Generalized fit;Generalized seizure;Generalized seizure (finding);Other forms of epilepsy;Other forms of epilepsy (disorder);Other forms of epilepsy NOS;Other forms of epilepsy NOS (disorder);Other forms of epilepsy and recurrent seizures;Other forms of epilepsy, with intractable epilepsy;Other forms of epilepsy, without mention of intractable epilepsy;Seizure disorder;Seizure disorder (disorder);[X]Other epilepsy;[X]Other epilepsy (disorder);epilepsy;epilepsy syndrome;epileptic syndrome;seizure disorder
Epilepsy syndrome	Orphanet_166463	N/A	N/A
Epilepsy with generalized tonic-clonic seizures	EFO_0007262	A generalized tonic-clonic seizure.;An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.	Epilepsy, Tonic-Clonic;Epileptic seizures, tonic-clonic;Grand Mal epilepsy;Tonic-clonic epilepsy (disorder);epilepsy with generalized tonic-clonic seizures;epileptic seizures, tonic-clonic;grand Mal epilepsy;tonic-clonic epilepsy
Epithelial neoplasm	EFO_0006858	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.;benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas	epithelial neoplasm;epithelioma
Epithelial neoplasm of rectum	MONDO_0024476	A epithelial neoplasm that involves the rectum.	rectal epithelial neoplasm;rectal epithelial tumor;rectum epithelial neoplasm
Epithelial skin neoplasm	MONDO_0021634	A epithelial neoplasm that involves the zone of skin.	epithelial skin neoplasm;epithelial skin tumor;skin epithelium neoplasm;skin epithelium tumor;zone of skin epithelial neoplasm
Epithelial-stromal tgfbi dystrophy	MONDO_0000764	Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.	TGFBI corneal dystrophy (disease);corneal dystrophy (disease) caused by mutation in TGFBI
Epithelial tumor of colon	MONDO_0024479	A epithelial neoplasm that involves the colon.	colon epithelial neoplasm
Epstein-barr virus-associated malignant lymphoproliferative disorder	MONDO_0017343	N/A	EBV-associated lymphoproliferative disorder
Epstein-barr virus-associated mesenchymal tumor	MONDO_0017345	N/A	EBV-associated mesenchymal tumor
Epstein-barr virus infection	EFO_0000769	A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.;An infection that is caused by Epstein-Barr virus.;Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).	EBV INFECT;EBV Infection;EBV Infections;EBV infection;EPSTEIN BARR VIRUS INFECT;Epstein Barr Virus Infections;Epstein-Barr Virus Infections;Epstein-Barr Virus infection;Epstein-Barr virus infection;Epstein-Barr virus infection (disorder);Epstein-Barr virus infectious disease;HERPESVIRUS 4 INFECT HUMAN;HUMAN HERPES VIRUS 4 INFECT;HUMAN HERPESVIRUS 4 INFECT;Herpesvirus 4 Infections, Human;Human Herpes Virus 4 Infections;Human Herpesvirus 4 Infections;Human gammaherpesvirus 4 caused disease or disorder;Human gammaherpesvirus 4 disease or disorder;Human gammaherpesvirus 4 infectious disease;INFECT EBV;INFECT EPSTEIN BARR VIRUS;Infections, EBV;Infections, Epstein-Barr Virus;Tumor Virus Infections;Virus Infections, Epstein-Barr
Epstein-barr virus-related tumor	MONDO_0017342	N/A	EBV-related tumor
Erythrocyte count	EFO_0004305	The number of red blood cells per unit volume in a sample of venous blood.	RBC;erythrocyte number;red blood cell count
Erythrocyte disease	MONDO_0044347	A disease or disorder that involves the erythrocyte.	disease of erythrocyte;disease or disorder of erythrocyte;disorder of erythrocyte;erythrocyte disease;erythrocyte disease or disorder;red blood cell disease;red blood cell disorder
Erythroid neoplasm	MONDO_0020703	N/A	erythroid neoplasm;erythroid tumor
Esc derived cell line	EFO_0005738	ESC derived cell line is a cell line that derives from an embryonic stem call	ESC cell line;embryonic stem cell derived cell line
Escherichia coli meningitis	EFO_1000929	A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400);A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)	Escherichia coli meningitis;Escherichia coli meningitis (disorder);Meningitis due to E. coli;Meningitis, Escherichia coli
Esophageal adenocarcinoma	EFO_0000478	A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus.  Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported.  Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas.  Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular.  The prognosis is poor.;A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.	Adenocarcinoma of Esophagus;Adenocarcinoma of oesophagus;Adenocarcinoma of the Esophagus;Oesophageal adenocarcinoma NOS;adenocarcinoma - esophagus;adenocarcinoma of esophagus;adenocarcinoma of esophagus (disorder);adenocarcinoma of the esophagus;esophageal adenocarcinoma;esophagus adenocarcinoma;oesophageal adenocarcinoma
Esophageal cancer	MONDO_0007576	A primary or metastatic malignant neoplasm involving the esophagus.	cancer of esophagus;esophageal cancer;esophagus cancer;malignant esophageal neoplasm;malignant esophageal tumor;malignant esophagus neoplasm;malignant esophagus tumor;malignant neoplasm of esophagus;malignant neoplasm of the esophagus;malignant tumor of esophagus;malignant tumor of the esophagus
Esophageal carcinoma	EFO_0002916	A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage.	Carcinoma of the Esophagus
Esophageal disease	EFO_0009544	A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.	disease of esophagus;disease or disorder of esophagus;disorder of esophagus;esophageal disease;esophageal disorder;esophagus disease;esophagus disease or disorder
Esophageal malformation	Orphanet_88993	N/A	N/A
Esophageal squamous cell carcinoma	EFO_0005922	A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor.;Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.	ESCC;cancer of esophagus;carcinoma of esophagus;esophageal cancer;esophageal epidermoid carcinoma;esophageal scc;esophageal squamous cell cancer;esophageal squamous cell carcinoma;esophagus scc;esophagus squamous cell carcinoma;scc of esophagus;scc of the esophagus;squamous cell car. - esophagus;squamous cell carcinoma of esophagus;squamous cell carcinoma of the esophagus
Esophagitis (disease)	MONDO_0001409	An acute or chronic inflammatory disease affecting the esophageal wall.	esophagitis;esophagus inflammation;inflammation of esophagus
Esophagitis	HP_0100633	Inflammation of the esophagus.	Oesophagitis
Essential thrombocythemia	EFO_0000479	A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.;A chronic myeloproliferative disorder that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage.  The cause is unknown.  Median survival times of 10-15 years are commonly reported.  (WHO, 2001);A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage.  The cause is unknown.  Median survival times of 10-15 years are commonly reported.  (WHO, 2008);A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008);A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.	Essential (hemorrhagic) thrombocythemia;Essential Thrombocytemia;Essential Thrombocythemias;Essential Thrombocytosis;Essential haemorrhagic thrombocythaemia;Essential hemorrhagic thrombocythemia;Essential thrombocythaemia;Essential thrombocythaemia (clinical disorder);Essential thrombocythaemia (clinical);Essential thrombocythaemia (disorder);Essential thrombocythemia (clinical disorder);Essential thrombocythemia (clinical);Essential thrombocythemia (disorder);Essential thrombocythemia (morphologic abnormality);Essential thrombocytosis (disorder);Hemorrhagic Thrombocythemia;Hemorrhagic Thrombocythemias;Idiopathic Thrombocythemias;Idiopathic haemorrhagic thrombocythaemia;Idiopathic hemorrhagic thrombocythemia;Idiopathic thrombocythaemia;Idiopathic thrombocythemia (disorder);Primary Thrombocythemia;Primary Thrombocythemias;Primary Thrombocytosis;Thrombocythemia, Essential;Thrombocythemia, Hemorrhagic;Thrombocythemia, Idiopathic;Thrombocythemia, Primary;Thrombocythemias, Essential;Thrombocythemias, Hemorrhagic;Thrombocythemias, Idiopathic;Thrombocythemias, Primary;[M]Idiopathic thrombocythaemia;[M]Idiopathic thrombocythemia;essential thrombocytemia;essential thrombocythaemia;essential thrombocythemia;essential thrombocytosis;familial thrombocytosis;hemorrhagic thrombocythemia;hereditary thrombocythemia;idiopathic thrombocythemia;primary thrombocythemia;primary thrombocytosis
Essential tremor	EFO_0003108	A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.	Essential tremor (finding);benign essential tremor;benign essential tremor (disorder) [Ambiguous]
Estradiol measurement	EFO_0004697	Is a quantification of circulating estradiol a circulating steriod sex hormone.	estradiol levels;oestrogen level;oestrogen levels
Estrogen-receptor negative breast cancer	EFO_1000650	a subtype of breast cancer that is estrogen-receptor negative	ER- breast cancer;estrogen-receptor negative breast cancer
Estrogen-receptor positive breast cancer	EFO_1000649	a subtype of breast cancer that is estrogen-receptor positive	ER+ breast cancer;estrogen receptor positive breast cancer;estrogen-receptor positive breast cancer
Event-related brain oscillation	EFO_0004358	The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus	event-related brain oscillations
Ewing sarcoma	EFO_0000174	A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed);A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation.  It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor.  It affects mostly males under age 20, and it can occur in soft tissue or bone.  Pain and the presence of a mass are the most common clinical symptoms.;A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.;A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms.;A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004	EFTs;ES;Ewing Family of Tumors;Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor;Ewing Tumor;Ewing sarcoma;Ewing sarcoma family of tumors;Ewing's Family of Tumors;Ewing's Family of Tumours;Ewing's Sarcoma;Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor;Ewing's family localized tumor;Ewing's sarcoma;Ewing's sarcoma (morphologic abnormality);Ewing's sarcoma/peripheral primitive neuroectodermal tumor;Ewing's tumor;Ewing's tumour;Ewings Tumor;Ewings sarcoma;Ewings sarcoma-primitive neuroectodermal tumor;PNET of Thoracopulmonary Region;PNET of Thoracopulmonary region;Sarcoma, Ewing;Sarcoma, Ewing's;Sarcoma, Ewings;Tumor, Ewing's;Tumors of Ewing's Family;Tumors of the Ewing's Family;bone Ewing's sarcoma;extraosseous Ewing's sarcoma;peripheral Neuroectodermal neoplasm;peripheral neuroectodermal tumor (disorder);peripheral neuroectodermal tumor (morphologic abnormality);peripheral neuroepithelioma (disorder);peripheral primitive neuroectodermal tumor
Ewing sarcoma/peripheral primitive neuroectodermal tumor	MONDO_0021038	A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.	EFTs;Ewing family of tumors;Ewing sarcoma family of tumors;Ewing sarcoma/peripheral PNET;Ewing sarcoma/peripheral primitive neuroectodermal tumor;Ewing's family of tumors;Ewing's family of tumours;Ewing's sarcoma/peripheral primitive neuroectodermal tumor;tumors of Ewing's family;tumors of the Ewing's family
Excretory apparatus of the lacrimal system anomaly	Orphanet_98605	N/A	N/A
Exfoliation syndrome	EFO_0004235	An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.;The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)	Glaucoma Capsulare;Pseudoexfoliation glaucoma;Pseudoexfoliation syndrome;XFG;exfoliation glaucoma;exfoliation syndrome;exfoliative syndrome;pseudo-exfoliation syndrome;pseudoexfoliation syndrome
Experimental autoimmune encephalomyelitis	EFO_0001066	An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.;An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)	ALLERGIC ENCEPH;ALLERGIC ENCEPH EXPER;AUTOIMMUNE ENCEPH EXPER;AUTOIMMUNE EXPER ENCEPH;Allergic Encephalomyelitis, Experimental;Allergic encephalomyelitis;Allergic encephalomyelitis (disorder);Autoimmune Encephalomyelitis, Experimental;Autoimmune Experimental Encephalomyelitis;EAE;ENCEPH ALLERGIC;ENCEPH AUTOIMMUNE EXPER;ENCEPH EXPER AUTOIMMUNE;EXPER ALLERGIC ENCEPH;EXPER AUTOIMMUNE ENCEPH;Encephalomyelitis, Allergic;Encephalomyelitis, Autoimmune Experimental;Encephalomyelitis, Autoimmune, Experimental;Encephalomyelitis, Experimental Allergic;Encephalomyelitis, Experimental Autoimmune;Experimental Allergic Encephalomyelitides;Experimental Allergic Encephalomyelitis;Experimental Encephalomyelitis, Autoimmune;Experimental allergic encephalomyelitis (disorder);experimental autoimmune encephalomyelitis
Exploratory eye movement measurement	EFO_0007700	quantification of a participant’s eye tracking while viewing stationary S-shaped figures	N/A
Extracellular matrix protein 1 measurement	EFO_0008126	quantification of the amount of extracellular matrix protein 1 in a sample	N/A
Extragonadal germ cell cancer	MONDO_0003113	A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	extragonadal germ cell malignant tumor;extragonadal germ cell tumor, malignant;malignant extragonadal germ cell tumor;malignant neoplasm of extragonadal germ cell;malignant neoplasm of the extragonadal germ cell;malignant tumor of extragonadal germ cell;malignant tumor of the extragonadal germ cell;neoplasm of extragonadal germ cell
Extragonadal germ cell tumor	MONDO_0018201	A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).	extragonadal germ cell neoplasm;extragonadal germ cell neoplasms;extragonadal germ cell tumor;neoplasm of extragonadal germ cell;neoplasm of the extragonadal germ cell;primary extragonadal germ cell tumor;tumor of extragonadal germ cell;tumor of the extragonadal germ cell
Extragonadal non-dysgerminomatous germ cell tumor	MONDO_0020539	N/A	N/A
Extragonadal nonseminomatous germ cell tumor	MONDO_0003578	A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	cancer of extragonadal non-seminomatous germ cell;cancer of the extragonadal non-seminomatous germ cell;extragonadal non-seminomatous germ cell cancer;extragonadal primary Nonseminoma;malignant extragonadal Nonseminoma;malignant extragonadal non-seminomatous germ cell neoplasm;malignant extragonadal non-seminomatous germ cell tumor;malignant neoplasm of extragonadal non-seminomatous germ cell;malignant neoplasm of the extragonadal non-seminomatous germ cell;malignant tumor of extragonadal non-seminomatous germ cell;malignant tumor of the extragonadal non-seminomatous germ cell;primary malignant extragonadal Nonseminoma
Extrahepatic bile duct adenocarcinoma	MONDO_0002665	A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct	adenocarcinoma of extrahepatic bile duct;adenocarcinoma of the extrahepatic bile duct;extrahepatic bile duct adenocarcinoma
Extrahepatic bile duct carcinoma	MONDO_0003090	A carcinoma that arises from epithelial cells of the extrahepatic bile duct.	carcinoma of extrahepatic bile duct;carcinoma of the extrahepatic bile duct;extrahepatic bile duct cancer;extrahepatic bile duct carcinoma
Extrahepatic bile duct neoplasm	MONDO_0021385	A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.	extrahepatic bile duct neoplasm;extrahepatic bile duct neoplasm (disease);extrahepatic bile duct tumor;neoplasm of extrahepatic bile duct;neoplasm of the extrahepatic bile duct;tumor of extrahepatic bile duct;tumor of the extrahepatic bile duct
Extrinsic cardiomyopathy	MONDO_0002824	A cardiomyopathy that is not due to abnormalities in heart muscle cells.	secondary cardiomyopathy
Eye adnexa disease	EFO_0009546	A disease involving the ocular adnexa.	disease of ocular adnexa;disease or disorder of ocular adnexa;disorder of ocular adnexa;eye adnexa disease;ocular adnexa disease;ocular adnexa disease or disorder
Eyebrow/eyelashes pigmentation anomaly	Orphanet_98601	N/A	N/A
Eye burns	EFO_1001788	Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation.	N/A
Eye carcinoma	MONDO_0002466	A carcinoma that arises from epithelial cells of the eye	carcinoma of eye;carcinoma of eyeball of camera-type eye;carcinoma of the eye;eye carcinoma;eyeball of camera-type eye carcinoma;ocular carcinoma
Eye color	EFO_0003949	Color of the iris.	Color, Eye;Colors, Eye;Eye Colors;iris color
Eye degenerative disease	MONDO_0004884	A neurodegenerative disease that involves the eye.	degenerative disorder of eye;eye neurodegenerative disease;eyeball of camera-type eye neurodegenerative disease;neurodegenerative disease of eyeball of camera-type eye
Eye disease	EFO_0003966	A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.;A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [NCIt:C26767];An eye and adnexa disease that is located in the eye.	disease of eye;disease of eyeball of camera-type eye;disease or disorder of eyeball of camera-type eye;disorder of eye;disorder of eyeball of camera-type eye;eye disease;eye disorder;eyeball of camera-type eye disease;eyeball of camera-type eye disease or disorder
Eye infectious disease	MONDO_0043885	An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.	eye infection
Eyelid disease	EFO_0009547	A disease involving the eyelid.	disease of eyelid;disease or disorder of eyelid;disorder of eyelid;eyelid disease;eyelid disease or disorder;eyelid disorder
Eyelids malposition disorder	Orphanet_98567	N/A	N/A
Eye measurement	EFO_0004731	Is a quantification of some eye structure or property of an eye structure, such as corneal thickness.	N/A
Eye morphology measurement	EFO_0007858	quantification of some aspect of eye morphology, such as the width of the eye socket	N/A
Eye neoplasm	EFO_0003824	A neoplasm (disease) that involves the eye.;Tumors or cancer of the EYE.	Cancer of Eye;Cancer of the Eye;Cancer, Eye;Cancers, Eye;EYE NEOPL;Eye Cancer;Eye Cancers;Eye Neoplasms;NEOPL EYE;Neoplasm, Eye;Neoplasms, Eye;eye neoplasm;eye neoplasm (disease);eye tumor;eyeball of camera-type eye neoplasm;eyeball of camera-type eye tumor;neoplasm of eye;neoplasm of eyeball of camera-type eye;neoplasm of the eye;ocular neoplasm;ocular tumor;tumor of eye;tumor of eyeball of camera-type eye;tumor of the eye
Fabry disease	Orphanet_324	Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.	Alpha-galactosidase A deficiency;Anderson-Fabry disease;Angiokeratoma corporis diffusum;Diffuse angiokeratoma;FD
Face disease	MONDO_0044987	A disease or disorder that involves the face.	disease of face;disease or disorder of face;disorder of face;face disease;face disease or disorder
Facial emotion recognition measurement	EFO_0008329	quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions	N/A
Facial hair thickness measurement	EFO_0007823	quantification of the thickness or density of facial air, including beards and eyebrows	N/A
Facial morphology measurement	EFO_0007841	quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion	N/A
Facial paralysis	HP_0007209	Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).	Facial paralysis;Facial paresis
Facioscapulohumeral dystrophy	Orphanet_269	Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.	FSH dystrophy;FSHD;Facioscapulohumeral muscular dystrophy;Facioscapulohumeral myopathy;Landouzy-Dejerine myopathy
Factor xi measurement	EFO_0004694	Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation.	N/A
Familial benign chronic pemphigus	Orphanet_2841	Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).	Benign chronic familial pemphigus of Hailey-Hailey;Hailey-Hailey disease
Familial cardiomyopathy	EFO_0002945	An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.	Familial cardiomyopathy (disorder);Primary familial cardiomyopathy;familial cardiomyopathy;hereditary cardiomyopathy
Familial cystic renal disease	Orphanet_93587	N/A	N/A
Familial dilated cardiomyopathy	Orphanet_217607	N/A	N/A
Familial dysautonomia	Orphanet_1764	N/A	HSAN3;Hereditary sensory and autonomic neuropathy type 3;Hereditary sensory and autonomic neuropathy type III;Riley-Day syndrome
Familial hemophagocytic lymphohistiocytosis	Orphanet_540	Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.	FHL1;Familial HLH;HLH1;HPLH1;familial HLH;familial hemophagocytic lymphohistiocytosis;familial hemophagocytic lymphohistiocytosis type 1
Familial hyperinsulinism	Orphanet_276525	N/A	FHI;Familial hyperinsulinemic hypoglycemia
Familial hyperlipidemia	MONDO_0001336	An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.	hereditary hyperlipidemia (disease)
Familial hypertrophic cardiomyopathy	MONDO_0024573	Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.	cardiomyopathy, familial hypertrophic;familial hypertrophic cardiomyopathy;hereditary hypertrophic cardiomyopathy;hypertrophic familial cardiomyopathy
Familial isolated dilated cardiomyopathy	Orphanet_154	Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.	Familial or idiopathic dilated cardiomyopathy
Familial isolated pituitary adenoma	MONDO_0017824	N/A	FIPA
Familial leiomyomatosis	MONDO_0023616	An instance of leiomyomatosis that is caused by an inherited modification of the individual's genome.	hereditary leiomyomatosis
Familial mediterranean fever	Orphanet_342	Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.	Benign paroxysmal peritonitis;Benign recurrent polyserositis;FMF;Familial paroxysmal polyserositis;Periodic disease
Familial medullary thyroid carcinoma	Orphanet_99361	N/A	Familial MTC
Familial osteosclerosis	MONDO_0042973	An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.	hereditary osteosclerosis
Familial partial epilepsy	Orphanet_309	N/A	N/A
Familial primary hyperparathyroidism	Orphanet_2207	N/A	N/A
Familial restrictive cardiomyopathy	Orphanet_217635	N/A	N/A
Familial thoracic aortic aneurysm and aortic dissection	Orphanet_91387	Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.	Familial TAAD
Familial thrombocytosis	Orphanet_71493	Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.	Familial thrombocythemia;Hereditary thrombocythemia;THCYT;familial thrombocythemia;familial thrombocytosis;hereditary thrombocythemia;hereditary thrombocytosis;hereditary thrombocytosis disease
Fanconi anemia	Orphanet_84	Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.	Fanconi pancytopenia
Fasting blood glucose measurement	EFO_0004465	An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating.	fasting blood glucose level;fasting glucose-related traits;fasting plasma glucose
Fasting blood insulin measurement	EFO_0004466	A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted	fasting blood insulin;fasting blood insulin level;fasting insulin-related traits
Fatty acid measurement	EFO_0005110	The determination of the amount of fatty acids present in a sample.	N/A
Fatty liver disease	MONDO_0004790	A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.	alcoholic fatty liver;fatty change of liver;fatty liver;hepatic lipidosis;steatosis of liver
Febrile seizures	HP_0002373	Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two.	Febrile convulsions;Seizures, Febrile;Seizures, febrile, in early childhood;Seizures, generalized, associated with fever
Feingold syndrome	Orphanet_1305	Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.	Brunner-Winter syndrome;Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum;FGLDS;FS;MMT;MODED syndrome;Microcephaly-digital anomalies-normal intelligence syndrome;Microcephaly-intellectual disability-tracheoesophageal fistula syndrome;Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome;ODED syndrome;Oculo-digito-esophageal-duodenal syndrome
Female infertility due to an anomaly of ovarian function	MONDO_0018401	N/A	N/A
Female infertility due to hypothalamic-pituitary-gonadal axis disorder	MONDO_0018397	N/A	rare female infertility due to gonadotropic axis disorder;rare female infertility due to hypothalamic-pituitary-ovarian axis disorder
Female infertility	EFO_0008560	Diminished or absent ability of a female to achieve conception.;Diminished or absent ability of a female to achieve conception. [ MESH:D007247 ]	female infertility;female reproductive system infertility;female reproductive system infertility disorder;infertility disorder of female reproductive system
Female reproductive organ cancer	MONDO_0001416	A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.	cancer of female reproductive organ;female reproductive cancer;female reproductive organ cancer;gynecologic cancer;malignant female reproductive organ neoplasm;malignant female reproductive system neoplasm;malignant female reproductive system tumor;malignant gynecologic neoplasm;malignant gynecologic tumor;malignant neoplasm of female genital organ;malignant neoplasm of female reproductive organ;malignant neoplasm of female reproductive system;malignant neoplasm of the female reproductive system;malignant tumor of female reproductive system;malignant tumor of the female reproductive system
Female reproductive system disease	EFO_0009549	A disease involving the female reproductive system.	disease of female reproductive system;disease or disorder of female reproductive system;disorder of female genital system;disorder of female reproductive system;female reproductive disease;female reproductive system disease;female reproductive system disease or disorder;female reproductive system disorder
Female reproductive system neoplasm	MONDO_0021148	A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.	female reproductive organ neoplasm (disease);female reproductive organ tumor;female reproductive system neoplasm;female reproductive system neoplasm (disease);female reproductive system tumor;gynecologic neoplasm;gynecologic tumor;neoplasm of female reproductive organ;neoplasm of female reproductive system;neoplasm of the female reproductive system;tumor of female reproductive system;tumor of the female reproductive system
Ferritin measurement	EFO_0004459	A ferritin measurement a is measurement of ferritin level  in serum as an indicator of iron metabolism	ferritin level
Fetal alcohol spectrum disorder	MONDO_0000408	N/A	N/A
Fetal erythroblastosis	EFO_1000937	A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN.;A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.	(Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn);EF - Erythroblastosis foetalis;EF - erythroblastosis foetalis;Erythroblastosis, Fetal;HDFN;erythroblastosis fetalis;fetal erythroblastosis;haemolytic disease due to rhesus isoimmunisation;hemolytic disease of the fetus or newborn;hemolytic disease of the newborn;isoimmune hemolytic disease of the newborn;rhesus isoimmunisation of the newborn
Fetal growth restriction	EFO_0000495	A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.	FET GROWTH RET 2500+G;FET GROWTH RET 500-749G;FET GROWTH RET 750-999G;FET GROWTH RETARD <500G;FET GROWTH RETARD WTNOS;FET GRWTH RET 1000-1249G;FET GRWTH RET 1250-1499G;FET GRWTH RET 1500-1749G;FET GRWTH RET 1750-1999G;FET GRWTH RET 2000-2499G;FGR - Fetal growth retardation;Fetal Growth Retardation;Fetal growth retardation (disorder);Fetal growth retardation NOS;Fetal growth retardation NOS (disorder);Fetal growth retardation, NOS;Fetal growth retardation, unspecified;Fetal growth retardation, unspecified [weight];Fetal growth retardation, unspecified, 1,000-1,249 grams;Fetal growth retardation, unspecified, 1,250-1,499 grams;Fetal growth retardation, unspecified, 1,500-1,749 grams;Fetal growth retardation, unspecified, 1,750-1,999 grams;Fetal growth retardation, unspecified, 2,000-2,499 grams;Fetal growth retardation, unspecified, 2,500+ grams;Fetal growth retardation, unspecified, 500-749 grams;Fetal growth retardation, unspecified, 750-999 grams;Fetal growth retardation, unspecified, less than 500 grams;Foetal growth retardation, NOS;IUGR;IUGR - Intrauterine growth retardation;Intrauterine growth retardation;Intrauterine growth retardation, NOS;Microsomia;Microsomic baby;Poor fetal growth;Poor fetal growth state;fetal Growth retardation;fetal SGA;fetal growth restriction;fetal growth retardation;fetal small for gestational Age;fetus small for gestational Age;intrauterine Growth restriction;intrauterine Growth retardation
Fever	HP_0001945	Elevated body temperature due to failed thermoregulation.	hyperthermia;pyrexia
Fev/fec ratio	EFO_0004713	N/A	FEV/FVC;FEV1/FVC
Fg syndrome	EFO_0009297	FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia , constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum . Medical problems including heart defects , seizures , undescended testicle , and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.;FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia , constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum . Medical problems including heart defects , seizures , undescended testicle , and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. [ GARD:0002317 ]	FG syndrome;Keller syndrome
Fibrinogen measurement	EFO_0004623	is a quantification of circulating fibrinogen  (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation.	fibrinogen levels
Fibroblast growth factor basic measurement	EFO_0008130	quantification of the amount of fibroblast growth factor basic in a sample	N/A
Fibroblastic neoplasm	EFO_1000255	A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.	fibroblastic neoplasm;fibroblastic tumor;fibrocytic neoplasm;fibrocytic tumor;fibrogenic neoplasm;fibrogenicTumor;fibrous neoplasm;fibrous tumor
Fibrodysplasia ossificans progressiva	Orphanet_337	Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.	FOP;Myositis ossificans progressiva;Stone Man syndrome;Stone man syndrome;fibrodysplasia ossificans progressiva;fop;myositis ossificans progressiva;progressive myositis ossificans;progressive ossifying myositis
Fibroepithelial neoplasm	EFO_0007271	A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.;A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue.	Fibroepithelial neoplasm (morphologic abnormality);Fibroepithelial neoplasm NOS (morphologic abnormality);Fibroepithelial tumor;Fibroepithelial tumor (qualifier value);Neoplasms, Fibroepithelial;fibroepithelial neoplasm;fibroepithelial tumor
Fibroma	EFO_0002424	A benign neoplasm arising from the fibrous tissues. It is characterized by the presence of spindle-shaped fibroblasts.;A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.	fibroma;fibroma, benign
Fibromatosis	EFO_0000497	A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.	fibromatosis
Fibromyalgia	EFO_0005687	A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.	fibromyalgia;fibromyalgia syndrome
Fibrosarcoma	EFO_0002087	A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.	fibrocytic tumor;fibrosarcoma;fibrosarcoma (disease);fibrosarcoma (excluding infantile fibrosarcoma);fibrosarcoma - not infantile;fibrosarcoma of soft tissue;fibrosarcoma, malignant;fibrous tissue neoplasm;malignant fibromatous neoplasm
Fibrosis	EFO_0006890	the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This can be a reactive, benign, or pathological state.	N/A
Ficolin-1 measurement	EFO_0008134	quantification of the amount of ficolin-1 in a sample	N/A
Filoviridae infectious disease	EFO_0007273	A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses.;Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.	Filoviridae Infections;Filoviridae caused disease or disorder;Filoviridae disease or disorder;Filoviridae infectious disease
Flaviviridae infectious disease	EFO_0007274	A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors.;Infections with viruses of the family flaviviridae.	Flaviviridae Infections;Flaviviridae caused disease or disorder;Flaviviridae disease or disorder;Flaviviridae infectious disease
Flavivirus infections	EFO_1001326	Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE.	N/A
Focal epithelial hyperplasia	EFO_0007275	A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.;Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.	Focal Epithelial Hyperplasia;Heck disease;Heck's disease;Multifocal epithelial hyperplasia;focal epithelial hyperplasia;heck disease;heck's disease;multifocal epithelial hyperplasia
Focal palmoplantar keratoderma	Orphanet_307837	N/A	Focal PPK;Focal keratosis palmoplantaris;Focal palmoplantar hyperkeratosis
Focal segmental glomerulosclerosis	EFO_0004236	A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.;A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.	FGS;FGS (focal glomerular sclerosis);FSGS;FSGS - focal segmental glomerulosclerosis;focal glomerular sclerosis;focal glomerulosclerosis;focal segmental glomerulosclerosis;glomerulonephritis, focal sclerosing;glomerulosclerosis;glomerulosclerosis, focal;glomerulosclerosis, focal segmental
Focal, segmental or multifocal dystonia	Orphanet_1866	Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.	N/A
Follicular cyst	EFO_1001329	Cyst due to the occlusion of the duct of a follicle or small gland.	N/A
Follicular lymphoma	Orphanet_545	Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.	N/A
Follicular thyroid carcinoma	EFO_0000501	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  The nuclear features which characterise the thyroid gland papillary carcinoma are absent.  It is linked to radiation and comprises approximately 10% to 15% of thyroid cancers.  Clinically, it usually presents as a solitary mass in the thyroid gland.  It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound and fine needle biopsy. Treatment options include: partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.;A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.;An adenocarcinoma arising from the follicular cells of the thyroid gland.  According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).  (NCI05);An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)	Adenocarcinoma, Follicular;Adenocarcinomas, Follicular;FTC - Follicular thyroid carcinoma;Follicular Adenocarcinoma;Follicular Adenocarcinomas;Follicular Cancer of Thyroid;Follicular Cancer of Thyroid Gland;Follicular Cancer of the Thyroid;Follicular Cancer of the Thyroid Gland;Follicular Carcinoma of Thyroid;Follicular Carcinoma of Thyroid Gland;Follicular Carcinoma of the Thyroid;Follicular Thyroid Cancer;Follicular Thyroid Gland Carcinoma;Follicular adenocarcinoma (morphologic abnormality);Follicular adenocarcinoma - well differentiated;Follicular adenocarcinoma, NOS;Follicular adenocarcinoma, well differentiated;Follicular adenocarcinoma, well differentiated (morphologic abnormality);Follicular carcinoma;Follicular carcinoma - well differentiated;Follicular carcinoma of the Thyroid gland;Follicular carcinoma, NOS;Follicular carcinoma, well differentiated;Follicular thyroid carcinoma (disorder);Thyroid Follicular Carcinoma;Thyroid Gland Adenocarcinoma;Thyroid Gland Follicular Carcinoma;Well-Differentiated Follicular Adenocarcinoma;Well-Differentiated Follicular Carcinoma;[M]Follicular adenocarcinoma NOS;[M]Follicular adenocarcinoma NOS (morphologic abnormality);[M]Follicular carcinoma;carcinoma of thyroid follicle;carcinoma, follicular cell, malignant;follicular Thyroid cancer;follicular Thyroid carcinoma;follicular Thyroid gland carcinoma;follicular adenocarcinoma;follicular adenocarcinoma (morphologic abnormality);follicular adenocarcinoma, well differentiated;follicular adenocarcinoma, well differentiated (morphologic abnormality);follicular cancer of Thyroid;follicular cancer of Thyroid gland;follicular cancer of the Thyroid;follicular cancer of the Thyroid gland;follicular carcinoma;follicular carcinoma of Thyroid;follicular carcinoma of Thyroid gland;follicular carcinoma of the Thyroid;follicular carcinoma of the Thyroid gland;follicular thyroid cancer;follicular thyroid carcinoma;thyroid adenocarcinoma;thyroid follicle carcinoma;thyroid follicular carcinoma;thyroid gland adenocarcinoma;thyroid gland follicular cancer;thyroid gland follicular carcinoma;well-differentiated follicular adenocarcinoma;well-differentiated follicular carcinoma
Foot and mouth disease	EFO_0007277	A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.;A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.	Epizootic stomatitis;Foot-and-Mouth Disease;foot and mouth disease
Foot disease	MONDO_0044989	A disease or disorder that involves the pes.	disease of pes;disease or disorder of pes;disorder of foot;disorder of pes;foot disease;pes disease;pes disease or disorder
Forced expiratory volume	EFO_0004314	Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity.	FEV1;FEVt;timed vital capacity
Formal thought disorder	EFO_0004805	Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia	N/A
Fragile x-associated tremor/ataxia syndrome	Orphanet_93256	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.	FXTAS syndrome
Fragile x syndrome	Orphanet_908	Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.	FRAXA syndrome;FXS;FraX syndrome;Martin-Bell syndrome
Friedreich ataxia	Orphanet_95	Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.	FA;FRDA
Frontotemporal dementia	DOID_9255	A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.	Wilhemsen-Lynch disease;frontotemporal lobar degeneration;multiple system tauopathy with presenile dementia;pallidopontonigral degeneration
Frontotemporal dementia	HP_0002145	A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.	N/A
Frontotemporal dementia	Orphanet_282	Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).	FTD;Wilhemsen-Lynch disease;frontotemporal dementia;frontotemporal lobar degeneration;multiple system tauopathy with presenile dementia;pallidopontonigral degeneration
Frontotemporal neurodegeneration with movement disorder	Orphanet_306708	N/A	N/A
Fuchs endothelial corneal dystrophy	Orphanet_98974	Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.	Endoepithelial corneal dystrophy;FECD;Late hereditary endothelial dystrophy
Gait ataxia	HP_0002066	A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.	Ataxia of gait;Ataxic gait
Gait disturbance	HP_0001288	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. [ http://www.ncbi.nlm.nih.gov/pubmed/27770207 HPO:probinson ]	abnormal gait;abnormal walk;gait abnormalities;gait difficulties;gait disturbances;impaired gait
Gait measurement	EFO_0007680	quantification of some aspect of a person's gait such as rhythm, variability or step length	N/A
Galactosemia	Orphanet_352	Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).	N/A
Gallbladder cancer	MONDO_0005411	A malignant neoplasm involving the gall bladder	cancer of gall bladder;gall bladder cancer;gallbladder Ca;localized malignant gallbladder neoplasm;malignant gall bladder neoplasm;malignant gallbladder neoplasm;malignant gallbladder tumor;malignant neoplasm of gall bladder;malignant neoplasm of gallbladder;malignant neoplasm of the gallbladder;malignant tumor of gallbladder;malignant tumor of the gallbladder;malignant tumour of gallbladder
Gallbladder carcinoma	EFO_1001956	A carcinoma that arises from epithelial cells of the gall bladder;A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur.	Carcinoma of Gallbladder;Gall bladder carcinoma (adeno);Gall bladder carcinoma (adenocarcinoma);cancer of gallbladder;cancer of the gallbladder;carcinoma gallbladder;carcinoma of gall bladder;carcinoma of gallbladder;carcinoma of the gallbladder;gall bladder carcinoma;gallbladder carcinoma
Gallbladder disease	EFO_0003832	A disease involving the gall bladder.;Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases.	Bladder Disease, Gall;Bladder Diseases, Gall;Disease, Gall Bladder;Disease, Gallbladder;Diseases, Gall Bladder;Diseases, Gallbladder;GALL BLADDER DIS;GALLBLADDER DIS;Gall Bladder Diseases;Gall bladder disorder;Gallbladder Disease;Gallbladder Diseases;disease of gall bladder;disease or disorder of gall bladder;disorder of gall bladder;gall bladder disease;gall bladder disease or disorder;gallbladder disease;gallbladder disorder
Gallbladder neoplasm	EFO_0004606	A benign or malignant neoplasm affecting the gallbladder. Representative examples of benign neoplasms include lipoma, leiomyoma, and neurofibroma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.;A neoplasm (disease) that involves the gall bladder.	Cancer of Gallbladder;Gall Bladder Cancer;Gallbladder Cancer;Neoplasms, Gallbladder;gall bladder neoplasm;gall bladder neoplasm (disease);gall bladder tumor;gallbladder neoplasm;gallbladder tumor;neoplasm of gall bladder;neoplasm of gallbladder;neoplasm of the gallbladder;tumor of gall bladder;tumor of gallbladder;tumor of the gallbladder
Gallstones	EFO_0004210	Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.;Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.	Biliary Calculi;Gall Stone;Gall Stones;gallstones
Gambling behaviour	EFO_0004699	An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money.	gambling
Gamma-linolenic acid measurement	EFO_0007762	The determination of the amount of gamma-linolenic acid present in a sample.	N/A
Ganglioglioma	EFO_0003094	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. ;A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)	CNS ganglioglioma;adult ganglioglioma;childhood ganglioglioma;ganglioglioma;ganglioglioma, no ICD-O subtype
Gastric adenocarcinoma	EFO_0000503	A carcinoma that arises from glandular epithelial cells of the stomach;An adenocarcinoma arising from the stomach glandular epithelium.  Gastric adenocarcinoma is primarily a disease of older individuals, most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter Pylori infection.  The lack of early symptoms often delays the diagnosis of gastric cancer.  The majority of patients present with advanced tumors which have poor rates of curability.  Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type.  The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a &quot;curative&quot; resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).;curative	Adenocarcinoma of Stomach;Adenocarcinoma of the Stomach;Stomach Adenocarcinoma;adenocarcinoma - stomach;adenocarcinoma of stomach;adenocarcinoma of stomach (disorder);adenocarcinoma of the stomach;gastric (stomach) adenocarcinoma;gastric adenocarcinoma;stomach adenocarcinoma
Gastric cancer	MONDO_0001056	A primary or metastatic malignant neoplasm involving the stomach.	Ca lesser curvature - stomach;cancer of stomach;gastric cancer;malignant gastric neoplasm;malignant gastric tumor;malignant neoplasm of lesser curve of stomach;malignant neoplasm of stomach;malignant neoplasm of the stomach;malignant stomach neoplasm;malignant tumor of body of stomach;malignant tumor of greater curve of stomach;malignant tumor of lesser curve of stomach;malignant tumor of stomach;malignant tumor of the stomach;stomach cancer
Gastric carcinoma	EFO_0000178	A carcinoma that arises from epithelial cells of the stomach;A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium.	CA IN SITU STOMACH;Carcinoma in situ of stomach;carcinoma in situ of stomach (disorder);carcinoma in situ of stomach NOS (disorder);carcinoma of stomach;carcinoma of the stomach;gastric carcinoma;gastric carcinoma in situ;stomach carcinoma
Gastric cardia carcinoma	EFO_1001252	A carcinoma that arises from epithelial cells of the cardia of stomach.;carcinoma of cardia of stomach	cancer of gastric cardia;cancer of the gastric cardia;carcinoma of cardia of stomach;carcinoma of gastric cardia;carcinoma of the cardia of the stomach;carcinoma of the gastric cardia;cardia of stomach carcinoma;gastric cardia (stomach) cancer;gastric cardia cancer;gastric cardia carcinoma
Gastritis	EFO_0000217	A stomach disease that is an inflammation of the lining of the stomach.;Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.;Inflammation of the stomach.	Erosive Gastritis;Erosive gastropathy (disorder);GASTRITIS HEMORRHAGIC;Gastric catarrh;Gastritides;Gastritis;Gastritis (disorder);Gastritis [Ambiguous];Gastritis unspecified;Gastritis unspecified (disorder);Gastritis, NOS;Hemorrhagic Gastritis;Idiopathic erosive/hemorrhagic gastritis (disorder);Other specified gastritis;Other specified gastritis (disorder);Other specified gastritis NOS (disorder);Other specified gastritis, with hemorrhage;Other specified gastritis, without mention of hemorrhage;active gastritis;acute gastric mucosal erosion;acute gastric mucosal erosion (disorder);acute gastritis;acute gastritis (disorder);acute gastritis with hemorrhage;acute gastritis without mention of hemorrhage;acute gastritis, with hemorrhage;acute gastritis, without mention of hemorrhage;acute haemorrhagic gastritis;acute hemorrhagic gastritis (disorder);acute hemorrhagic gastritis [dup] (disorder);erosive gastritis;erosive gastropathy;gastritis;gastritis (disease);inflammation of stomach;stomach inflammation
Gastroduodenal malformation	Orphanet_97944	N/A	N/A
Gastroenteritis	EFO_1001463	An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.;INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER.	cholera morbus;gastroenteritis;inflammation of intestine;intestine inflammation
Gastroenteropancreatic neuroendocrine neoplasm	MONDO_0015078	A neuroendocrine neoplasm that involves the digestive system.	GEP-NEN;GEP-NET;carcinoid tumor of digestive system;digestive system NET;digestive system neuroendocrine neoplasm;digestive system neuroendocrine tumor;digestive system neuroendocrine tumor, well differentiated, low or intermediate grade;gastro-enteropancreatic neuroendocrine tumor;gastroenteropancreatic endocrine tumor;neuroendocrine neoplasm of digestive system
Gastroesophageal disease	MONDO_0015111	N/A	N/A
Gastrointestinal inflammation	HP_0004386	Inflammation of the gastrointestinal tract.	N/A
Gastrointestinal lymphoma	MONDO_0004699	A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.	digestive system lymphoma;gastrointestinal lymphoma;lymphoma of digestive system;primary digestive system lymphoma;primary gastrointestinal lymphoma
Gastrointestinal stroma tumor	HP_0100723	N/A	GIST;Gastrointestinal stromal tumor
Gaucher disease	Orphanet_355	Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms).	Acid beta-glucosidase deficiency;Gaucher disease;Gaucher syndrome;Gaucher's disease;Glucocerebrosidase deficiency;acid beta-glucosidase deficiency;glocucerebrosidase deficiency;glucocerebrosidase deficiency;glucocerebrosidosis;glucosylceramidase deficiency;glucosylceramide beta-glucosidase deficiency;kerasin thesaurismosis;lipoid histiocytosis;lipoid histiocytosis (kerasin type)
Generalised epilepsy	EFO_0005917	A chronic condition characterised by recurrent generalised seizures.;An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain	Generalized epilepsy;generalised epilepsy;idiopathic generalized epilepsy
Generalized arterial calcification of infancy	Orphanet_51608	Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.	Idiopathic infantile arterial calcification;Idiopathic obliterative arteriopathy;Infantile arteriosclerosis;Occlusive infantile arteriopathy
Generalized epilepsy with febrile seizures-plus	Orphanet_36387	Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).	GEFS+
Genetic 46,xx disorder of sex development	Orphanet_325697	N/A	Genetic 46,XX DSD;Genetic female pseudohermaphroditism
Genetic alopecia	MONDO_0021034	An instance of alopecia that is caused by a modification of the individual's genome.	genetic alopecia
Genetic biliary tract disease	Orphanet_156607	N/A	N/A
Genetic bone tumor	Orphanet_183527	N/A	N/A
Genetic branchial arch or oral-acral syndrome	Orphanet_183576	N/A	N/A
Genetic cardiac anomaly	Orphanet_271853	N/A	N/A
Genetic cardiac rhythm disease	Orphanet_101934	N/A	N/A
Genetic central nervous system and retinal vascular disease	Orphanet_183503	N/A	N/A
Genetic central nervous system malformation	Orphanet_183506	N/A	N/A
Genetic cerebrovascular dementia	Orphanet_371439	N/A	N/A
Genetic chronic primary adrenal insufficiency	Orphanet_101960	N/A	N/A
Genetic congenital limb malformation	Orphanet_183536	N/A	N/A
Genetic cranial malformation	Orphanet_183542	N/A	N/A
Genetic dementia	Orphanet_158124	N/A	N/A
Genetic dermis disorder	Orphanet_183472	N/A	N/A
Genetic dermis elastic tissue disorder	Orphanet_228215	N/A	N/A
Genetic developmental defect of the eye	Orphanet_183557	N/A	N/A
Genetic digestive tract malformation	Orphanet_183545	N/A	N/A
Genetic digestive tract tumor	Orphanet_271835	N/A	N/A
Genetic disorder	EFO_0000508	A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be).;Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.	genetic disease;hereditary disease
Genetic disorder of sex development of gynecological interest	Orphanet_325665	N/A	Genetic DSD of gynecological interest
Genetic disorder of sex development	Orphanet_325690	N/A	Genetic DSD
Genetic endocrine growth disease	MONDO_0015514	N/A	growth disorder
Genetic epidermal appendage anomaly	Orphanet_183447	N/A	N/A
Genetic epidermal disorder	Orphanet_183426	N/A	N/A
Genetic eye tumor	Orphanet_183619	N/A	N/A
Genetic frontotemporal degeneration with dementia	Orphanet_276061	N/A	N/A
Genetic gastro-esophageal disease	Orphanet_165658	N/A	N/A
Genetic glomerular disease	Orphanet_183586	N/A	N/A
Genetic gynecological tumor	Orphanet_183734	N/A	N/A
Genetic hair anomaly	Orphanet_183450	N/A	N/A
Genetic head and neck malformation	Orphanet_183583	N/A	N/A
Genetic hyperparathyroidism	Orphanet_208596	N/A	N/A
Genetic hyperpigmentation of the skin	Orphanet_183466	N/A	N/A
Genetic hypertension	Orphanet_156629	N/A	N/A
Genetic hypoparathyroidism	Orphanet_208593	N/A	N/A
Genetic infertility	Orphanet_275742	N/A	N/A
Genetic interstitial lung disease	Orphanet_264992	N/A	Genetic ILD
Genetic intestinal disease	Orphanet_165655	N/A	N/A
Genetic lens and zonula anomaly	Orphanet_183607	N/A	N/A
Genetic macular dystrophy	Orphanet_98664	N/A	N/A
Genetic malformation syndrome with short stature	Orphanet_183570	N/A	N/A
Genetic mixed dermis disorder	Orphanet_183481	N/A	N/A
Genetic motor neuron disease	Orphanet_98505	N/A	Genetic anterior horn cell disease
Genetic multiple congenital anomalies/dysmorphic syndrome	Orphanet_183533	N/A	N/A
Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	MONDO_0043007	An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome.	genetic MCA/variable MR;genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome;hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	Orphanet_330197	N/A	Genetic MCA/variable MR;Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Orphanet_330206	N/A	Genetic MCA;Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)
Genetic nail anomaly	Orphanet_183454	N/A	N/A
Genetic neurodegenerative disease	Orphanet_183500	N/A	N/A
Genetic neurodegenerative disease with dementia	Orphanet_276058	N/A	N/A
Genetic neuroendocrine tumor	Orphanet_271847	N/A	N/A
Genetic neuromuscular disease	Orphanet_183497	N/A	N/A
Genetic neuromuscular junction disease	Orphanet_98495	N/A	N/A
Genetic neuro-ophthalmological disease	Orphanet_183616	N/A	neuro-ophthalmological disease
Genetic neurovascular malformation	Orphanet_371436	N/A	neurovascular malformation
Genetic non-syndromic central nervous system malformation	Orphanet_269550	N/A	N/A
Genetic obesity	Orphanet_77828	N/A	N/A
Genetic optic atrophy	Orphanet_103	N/A	N/A
Genetic otorhinolaryngologic disease	MONDO_0018751	An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.	genetic otorhinolaryngologic disease
Genetic overgrowth/obesity syndrome	Orphanet_183573	N/A	overgrowth/obesity syndrome
Genetic pancreatic disease	Orphanet_165661	N/A	N/A
Genetic parenchymatous liver disease	Orphanet_156604	N/A	N/A
Genetic peripheral neuropathy	Orphanet_98497	N/A	N/A
Genetic pigmentation anomaly of the skin	Orphanet_183463	N/A	N/A
Genetic polyendocrinopathy	Orphanet_183643	N/A	N/A
Genetic renal or urinary tract malformation	Orphanet_183539	N/A	N/A
Genetic renal tubular disease	Orphanet_183592	N/A	N/A
Genetic renal tumor	Orphanet_183595	N/A	N/A
Genetic respiratory malformation	Orphanet_183622	N/A	respiratory malformation
Genetic respiratory or mediastinal malformation	Orphanet_183554	N/A	respiratory or mediastinal malformation
Genetic skeletal muscle disease	Orphanet_206634	N/A	N/A
Genetic skin disease	MONDO_0024255	An instance of skin disease that is caused by a modification of the individual's genome.	genetic skin disease;genodermatosis
Genetic skin tumor	Orphanet_183487	N/A	N/A
Genetic skin vascular disorder	Orphanet_183478	N/A	N/A
Genetic soft tissue tumor	Orphanet_271832	N/A	Genetic mesenchymal tumor
Genetic subcutaneous tissue disorder	Orphanet_183484	N/A	N/A
Genetic susceptibility to infections due to particular pathogens	Orphanet_183710	N/A	N/A
Genetic syndrome with a central nervous system malformation as major feature	Orphanet_269564	N/A	syndrome with a central nervous system malformation as major feature
Genetic syndrome with a cerebellar malformation as major feature	Orphanet_269567	N/A	syndrome with a cerebellar malformation as major feature
Genetic syndrome with limb malformations as a major feature	Orphanet_404577	N/A	syndrome with limb malformations as a major feature
Genetic syndrome with limb reduction defects	Orphanet_404574	N/A	syndrome with limb reduction defects
Genetic syndromic esophageal malformation	Orphanet_371445	N/A	N/A
Genetic syndromic pierre robin syndrome	Orphanet_363294	N/A	N/A
Genetic thrombotic microangiopathy	Orphanet_183589	The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.	thrombotic microangiopathy
Genetic tumor of hematopoietic and lymphoid tissues	Orphanet_322126	N/A	tumor of hematopoietic and lymphoid tissues
Genetic urogenital tract malformation	Orphanet_156622	N/A	urogenital tract malformation
Genetic vascular anomaly	Orphanet_211240	N/A	N/A
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Orphanet_183548	N/A	visceral malformation of the liver, biliary tract, pancreas or spleen
Genetic vitreous-retinal disease	Orphanet_98657	N/A	N/A
Genodermatosis with ocular features	Orphanet_98696	N/A	N/A
Germ cell and embryonal cancer	MONDO_0002510	Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus.	N/A
Germ cell tumor	EFO_0000514	A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.;A cancer that is derived_from germ cells.;Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.	Cancer, Embryonal;Cancer, Embryonal and Mixed;Cancer, Germ Cell;Cancers, Embryonal;Cancers, Germ Cell;EMBRYONAL NEOPL;Embryonal Cancer;Embryonal Cancers;Embryonal Neoplasm;Embryonal Neoplasms;GERM CELL EMBRYONAL NEOPL;GERM CELL EMBRYONIC NEOPL;GERM CELL NEOPL;Germ Cell Cancer;Germ Cell Cancers;Germ Cell Neoplasms;Germ Cell Tumors;Germ Cell and Embryonal Neoplasms;Germ Cell and Embryonic Neoplasms;Germ cell neoplasm;Germ cell neoplasm (morphologic abnormality);Germ cell neoplasm NOS (morphologic abnormality);Germ cell neoplasms (morphologic abnormality);Germ cell tumor (disorder);Germ cell tumor, NOS;Germ cell tumour;Germinoma;Germinoma (morphologic abnormality);NEOPL EMBRYONAL;NEOPL GERM CELL;NEOPL GERM CELL EMBRYONAL;NEOPL GERM CELL EMBRYONIC;Neoplasm of Germ Cell;Neoplasm of the Germ Cell;Neoplasm, Embryonal;Neoplasms, Embryonal;Neoplasms, Embryonal and Mixed;Neoplasms, Germ Cell;Neoplasms, Germ Cell and Embryonal;Neoplasms, Germ Cell and Embryonic;Tumor of Germ Cell;Tumor of the Germ Cell;Tumor, Germ Cell;Tumors, Germ Cell;[M]Germ cell neoplasm NOS;[M]Germ cell neoplasm NOS (morphologic abnormality);[M]Germ cell neoplasms;[M]Germ cell neoplasms (morphologic abnormality);germ cell neoplasm;germ cell tumor;malignant tumor of the germ cell;neoplasm of germ cell;neoplasm of the germ cell;tumor of germ cell;tumor of the germ cell
Germ cell tumor	Orphanet_3399	N/A	N/A
Germinomatous germ cell tumor	MONDO_0020580	A term that refers to germinoma, seminoma, or dysgerminoma.	germinomatous germ cell tumor
Gerstmann-straussler-scheinker syndrome	Orphanet_356	N/A	Subacute spongiform encephalopathy, Gerstmann-Straussler type
Gestational choriocarcinoma	Orphanet_99926	Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT; see this term) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole (see this term).	N/A
Gestational diabetes	EFO_0004593	Carbohydrate intolerance first diagnosed during pregnancy.;Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels.	GDM;diabetes in pregnancy;gestational diabetes;gestational diabetes mellitus;maternal gestational diabetes mellitus
Gestational trophoblastic disease	MONDO_0016784	N/A	N/A
Gestational trophoblastic neoplasm	Orphanet_59305	Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms).	GTN
Gfr change measurement	EFO_0006829	A quantification of the variation in an individual's glomerular filtration rate (GFR) over a period of time used in assessment of kidney function and diagnosis of kidney disease.	N/A
Gingival disease	EFO_0009670	A disease involving the gingiva.;A disease involving the gingiva. [database_cross_reference: MONDO:patterns/location_top]	disease of gingiva;disease or disorder of gingiva;disorder of gingiva;gingiva disease;gingiva disease or disorder;gingival disease
Gingival overgrowth	MONDO_0002507	Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)	gingival enlargement
Glandular cell neoplasm	MONDO_0024276	N/A	glandular cell epithelial neoplasm;glandular cell epithelium neoplasm;glandular cell neoplasm;glandular cell tumor
Glandular cystitis	MONDO_0002287	N/A	N/A
Glaucoma associated with neural crest cell migration anomaly	Orphanet_98632	N/A	secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
Glaucoma	EFO_0000516	An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed);Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.	GLAUCOMA NEC;Glaucoma (disorder);Glaucoma NOS;Glaucoma NOS (disorder);Glaucoma associated with other ocular disorders;Glaucoma associated with other ocular disorders (disorder);Glaucoma associated with other ocular disorders NOS;Glaucoma associated with other ocular disorders NOS (disorder);Glaucoma, NOS;Glaucomas;Other specified forms of glaucoma;Other specified forms of glaucoma (disorder);Other specified glaucoma;Other specified glaucoma NOS;Other specified glaucoma NOS (disorder);Unspecified glaucoma;glaucoma;glaucoma (disease)
Glioblastoma multiforme	EFO_0000519	A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).;The most malignant astrocytic tumor (WHO grade IV).  It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO);The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)	Astrocytoma, Grade IV;Astrocytomas, Grade IV;GBM;GBM (Glioblastoma);GBM (glioblastoma);GBM - Glioblastoma multiforme;GLM - Glioblastoma multiforme;Giant Cell Glioblastoma;Giant Cell Glioblastomas;Glioblastoma;Glioblastoma (morphologic abnormality);Glioblastoma NOS (morphologic abnormality);Glioblastoma, Giant Cell;Glioblastoma, NOS;Glioblastoma, no ICD-O subtype;Glioblastoma, no ICD-O subtype (morphologic abnormality);Glioblastomas;Glioblastomas, Giant Cell;Grade IV Astrocytic Neoplasm;Grade IV Astrocytic Tumor;Grade IV Astrocytoma;Grade IV Astrocytomas;Spongioblastoma Multiforme;WHO grade IV glioma;[M]Glioblastoma NOS;[M]Glioblastoma NOS (morphologic abnormality);adult glioblastoma multiforme;glioblastoma;glioblastoma (disease);glioblastoma multiforme;glioblastoma multiforme (disease);grade IV adult astrocytic tumor;grade IV astrocytic neoplasm;grade IV astrocytic tumor;grade IV astrocytoma;primary glioblastoma multiforme;spongioblastoma multiforme
Glioma	EFO_0005543	A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.;A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain.	GLIOMA, MALIGNANT;Malignant Glial Neoplasm;Malignant Glial Tumor;Malignant Glioma;Malignant Neuroglial Neoplasm;Malignant Neuroglial Tumor;brain glioma;glial neoplasm;glial tumor;glioma;neoplasm of neuroglia;neoplasm of the neuroglia;neuroglial neoplasm;neuroglial tumor;tumor of neuroglia;tumor of the neuroglia
Gliosarcoma	EFO_1001465	A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).;Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components.	Glioblastoma with Sarcomatous Component;Sarcomatous Glioma;glioblastoma with a sarcomatous component;glioblastoma with sarcomatous component;gliosarcoma
Globe disease	MONDO_0001524	N/A	N/A
Glomerular disease	EFO_1002049	A disease involving the renal glomerulus.	disease of renal glomerulus;disease or disorder of renal glomerulus;disorder of renal glomerulus;glomerular disease;glomerulopathy;renal glomerulus disease;renal glomerulus disease or disorder
Glomerular filtration rate	EFO_0005208	measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test	GFR
Glomerulonephritis (disease)	MONDO_0002462	A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.	glomerular nephritis;glomerulonephritis;nephritis of renal glomerulus;renal glomerulus nephritis
Glomerulosclerosis	MONDO_0000490	A hardening of the kidney glomerulus caused by scarring of the blood vessels.	glomerular sclerosis
Glucose metabolism disease	EFO_0009406	A metabolic disorder characterized by abnormal blood glucose levels.	disorder of glucose metabolism;glucose metabolism disease;glucose metabolism disorder
Glucose tolerance test	EFO_0004307	A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).	N/A
Glycogen storage disease due to acid maltase deficiency	Orphanet_365	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal.	Alpha-1,4-glucosidase acid deficiency;GSD due to acid maltase deficiency;GSD type 2;GSD type II;Glycogen storage disease type 2;Glycogen storage disease type II;Glycogenosis due to acid maltase deficiency;Glycogenosis type 2;Glycogenosis type II;Pompe disease
Glycogen storage disease	Orphanet_79201	N/A	GSD;Glycogenosis
Glycogen storage disease type 2b	EFO_1001333	An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.;Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.	ANTOPOL disease;Danon disease;GSD due to LAMP-2 deficiency;Glycogen Storage Disease Type IIb;LAMP2 lysosomal glycogen storage disease;glycogen storage disease type IIb;glycogenosis due to LAMP-2 deficiency;lysosomal glycogen storage disease caused by mutation in LAMP2;lysosomal glycogen storage disease with normal acid maltase activity;pseudoglycogenosis II
Glycogen storage disease with hypertrophic cardiomyopathy	Orphanet_217572	N/A	GSD with hypertrophic cardiomyopathy;Glycogenosis with hypertrophic cardiomyopathy
Goiter	EFO_0004283	Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC).;Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.	Thyromegaly;goiter;goiter (disease);goitre
Gonadal disease	MONDO_0002259	A non-neoplastic or neoplastic disorder that affects the testis or the ovary.	disease of gonad;disease or disorder of gonad;disorder of gonad;disorder of gonads;gonad disease;gonad disease or disorder;gonadal disorder;gonadal disorders
Gonadal germ cell tumor	MONDO_0018202	N/A	N/A
Gonosome anomaly	Orphanet_98155	N/A	Sex-chromosome anomaly
Gonosome number anomaly	Orphanet_98156	N/A	Sex-chromosome number anomaly
Gout	EFO_0004274	A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.;metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Gout is partly genetic.	articular gout;gout;gouty arthritis;gouty arthropathy
Gp41 c34 peptide, hiv measurement	EFO_0008140	quantification of the amount of gp41 C34 peptide, HIV in a sample	N/A
Grade ii glioma	MONDO_0021639	A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.	WHO grade II glioma;grade II glioma
Graft versus host disease	MONDO_0013730	Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.	GVH;GVHD;graft VS host disease;graft VS. host disease;graft versus host disease;graft-versus-host disease;graft-versus-host-disease;runt disease
Gram-negative bacterial infections	MONDO_0021678	Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.	N/A
Gram-positive bacterial infections	MONDO_0021679	Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.	N/A
Granulocyte colony-stimulating factor measurement	EFO_0008142	quantification of the amount of granulocyte colony-stimulating factor in a sample	N/A
Granulocyte count	EFO_0007987	The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.	blood granulocyte count
Granulocyte percentage of myeloid white cells	EFO_0007997	A calculated measurement in which the number of granulocytes is divided by the number of all myeloid white cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage.	N/A
Granulomatous angiitis	MONDO_0002341	Inflammation of the arteries that is characterized by the presence of granulomas.	Granulomatous arteritis
Granulomatous autoinflammatory syndrome	MONDO_0017955	N/A	N/A
Granulosa cell tumor	EFO_1000032	A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.	granulosa cell neoplasm;granulosa cell neoplasm (disease);granulosa cell tumor;granulosa cell tumor, adult type;granulosa cell tumor, adult type (morphologic abnormality);granulosa cell tumour, sarcomatoid;malignant granulosa cell neoplasm;neoplasm of granulosa cell;tumor of granulosa cell
Graves disease	EFO_0004237	A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy).;Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland ( hyperthyroidism ).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy , antithyroid drugs, and/or thyroid surgery.	Basedow disease;Basedow's disease;Flajani-Basedow-Graves disease;Graves disease;Graves' disease;exophthalmic goiter;grave's disease;toxic diffuse goiter
Graves ophthalmopathy	EFO_1001466	An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy.	Congestive Ophthalmopathy;Dysthyroid Ophthalmopathy;Edematous Ophthalmopathy;Graves' ophthalmopathy;Graves' orbitopathy;Myopathic Ophthalmopathy;Thyroid-Associated Ophthalmopathies;Thyroid-Associated Ophthalmopathy;dysthyroid/thyroid-associated orbitopathy (TAO);thyroid eye disease (TED)
Growth hormone-producing pituitary gland adenoma	EFO_1000287	An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.	GH cell adenoma;Somatotrophinoma;growth hormone producing adenoma of pituitary;growth hormone producing adenoma of pituitary gland;growth hormone producing adenoma of the pituitary;growth hormone producing adenoma of the pituitary gland;growth hormone producing pituitary adenoma;growth hormone producing pituitary gland adenoma;growth hormone secreting adenoma of pituitary;growth hormone secreting adenoma of pituitary gland;growth hormone secreting adenoma of the pituitary;growth hormone secreting adenoma of the pituitary gland;growth hormone secreting pituitary adenoma;growth hormone secreting pituitary gland adenoma;growth hormone-producing adenoma;growth hormone-producing pituitary gland adenoma;somatotrope adenoma;somatotroph adenoma
Growth hormone-producing pituitary gland neoplasm	MONDO_0019927	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.	Growth hormone-producing pituitary gland tumor;growth hormone producing neoplasm of pituitary;growth hormone producing neoplasm of pituitary gland;growth hormone producing neoplasm of the pituitary;growth hormone producing neoplasm of the pituitary gland;growth hormone producing pituitary gland neoplasm;growth hormone producing pituitary gland tumor;growth hormone producing pituitary neoplasm;growth hormone producing pituitary tumor;growth hormone producing tumor;growth hormone producing tumor of pituitary;growth hormone producing tumor of pituitary gland;growth hormone producing tumor of the pituitary;growth hormone producing tumor of the pituitary gland;growth hormone secreting neoplasm of pituitary;growth hormone secreting neoplasm of pituitary gland;growth hormone secreting neoplasm of the pituitary;growth hormone secreting neoplasm of the pituitary gland;growth hormone secreting pituitary gland neoplasm;growth hormone secreting pituitary gland tumor;growth hormone secreting pituitary neoplasm;growth hormone secreting pituitary tumor;growth hormone secreting tumor of pituitary;growth hormone secreting tumor of pituitary gland;growth hormone secreting tumor of the pituitary;growth hormone secreting tumor of the pituitary gland;growth hormone-producing pituitary gland neoplasm;pituitary gland somatotropinoma;pituitary somatotropinoma;somatotroph neoplasm;somatotroph tumor;somatotropinoma;somatotropinoma of pituitary;somatotropinoma of pituitary gland;somatotropinoma of the pituitary;somatotropinoma of the pituitary gland
Growth hormone secreting pituitary adenoma 1	MONDO_0007052	N/A	pituitary adenoma, growth hormone-secreting, type 1
Growth hormone-secreting pituitary adenoma	EFO_0004125	Mild forms of the disease are the most common, consisting solely of skin rashes that flare-up under certain conditions such as high humidity, high stress or tight-fitting clothes. Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic.	N/A
Growth-regulated alpha protein measurement	EFO_0008146	quantification of the amount of growth-regulated alpha protein in a sample	N/A
Guillain-barre syndrome	EFO_0007292	An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.;Guillain-BarrC) syndrome (GBS) is the term used to describe a spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS; see these terms) and some other regional variants.	GBS;Guillain Barre syndrome;Guillain Barré syndrome;Guillain-BarrC)-Strohl syndrome;Guillain-Barre Syndrome;Guillain-Barre syndrome;Guillain-Barre syndrome (disorder);Guillain-Barré-Strohl syndrome;Infectious neuronitis (disorder);Post-infectious polyneuritis;Post-infectious polyneuritis (disorder);Postinfectious polyneuritis;acute Infective Polyneuritis;acute inf. polyneuritis;acute infective polyneuritis;acute infective polyneuritis (disorder);acute infective polyneuritis NOS (disorder);acute postinfectious polyneuropathy;infectious neuronitis
Gut microbiome measurement	EFO_0007874	quantification of some aspect of an individual's micrbiome of the gut	N/A
Habitual abortion	EFO_1000954	Three or more consecutive spontaneous abortions.	Aborter - recurrent;Abortion, Habitual;Habitual aborter;Habitual aborter - unspecified (disorder);Habitual aborter NOS (disorder);chronic spontaneous abortion;habitual spontaneous abortion;recurrent abortion (disorder);recurrent miscarriage
Haemophilus influenzae meningitis	EFO_1000955	Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.	Haemophilus meningitis (disorder);Hemophilus meningitis;Meningitis, Haemophilus;haemophilus influenzae meningitis
Hair anomaly	MONDO_0019278	N/A	N/A
Hair color	EFO_0003924	Color of hair or fur.	Color, Hair;Colors, Hair;Hair Colors
Hair morphology	EFO_0005038	Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals.	N/A
Hair shape measurement	EFO_0007824	quantification of some aspect of hair shape, eg whether it is curly or straight	N/A
Hamartoma	EFO_1000634	A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.;A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.	hamartoma;hamartoma (disease)
Hand, foot and mouth disease	EFO_0007294	A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.;A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.	HFMD;Hand, Foot and Mouth Disease;Vesicular stomatitis and exanthem;hand foot and mouth disease;hand, foot and mouth disease;hand, foot, and mouth disease;vesicular stomatitis and exanthem
Hantavirus infectious disease	EFO_0007295	A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema.;Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.	Hantavirus Infections;Hantavirus caused disease or disorder;Hantavirus disease or disorder;Hantavirus infection;Hantavirus infectious disease;disease due to hantavirus;hantavirus infectious disease
Headache disorder	EFO_0009550	Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)	headache disorder
Head and neck carcinoma	MONDO_0002038	A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	carcinoma of craniocervical region;carcinoma of head and neck;carcinoma of neck;carcinoma of the head and neck;carcinoma of the neck;craniocervical region carcinoma;head and neck carcinoma;neck carcinoma
Head and neck disorder	EFO_0000524	A non-neoplastic or neoplastic disorder that affects the anatomic structures of the head and neck region. This category includes inflammatory disorders, benign neoplasms, precancerous conditions, and malignant neoplasms. [ NCI ];Any disease or disorder affecting the head and/or neck region.	craniocervical region disease;craniocervical region disease or disorder;disease of craniocervical region;disease or disorder of craniocervical region;disorder of craniocervical region;disorder of head (disorder);head and neck disorder;head disease;head or neck disease/disorder;head or neck disorder
Head and neck malignant neoplasia	EFO_0006859	A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	Cancer of Head and Neck;Cancer of the Head and Neck;Head and Neck Cancer;Head and neck cancer, NOS;Malignant Head and Neck Neoplasm;Malignant Head and Neck Tumor;Malignant Neoplasm of Head and Neck;Malignant Neoplasm of the Head and Neck;Malignant Tumor of Head and Neck;Malignant Tumor of the Head and Neck;cancer of craniocervical region;cancer of head and neck;cancer of the head and neck;craniocervical region cancer;head and neck cancer;head and neck malignant neoplasia;head and neck neoplasm;head and neck tumours;head/neck neoplasm;malignant craniocervical region neoplasm;malignant head and neck neoplasm;malignant head and neck tumor;malignant neoplasm of craniocervical region;malignant neoplasm of head and neck;malignant neoplasm of the head and neck;malignant tumor of head and neck;malignant tumor of the head and neck;tumor of head and neck
Head and neck neoplasia	EFO_0005950	A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	Head and Neck Neoplasm;Head and Neck Neoplasm (Excluding Central Nervous System);Head and Neck Tumor;Neoplasm of Head and Neck;Neoplasm of the Head and Neck;Tumor of Head and Neck;Tumor of the Head and Neck;craniocervical region neoplasm;craniocervical region neoplasm (disease);craniocervical region tumor;head and neck neoplasm;head and neck neoplasm (excluding central nervous system);head and neck tumor;neoplasm of craniocervical region;neoplasm of head and neck;neoplasm of the head and neck;tumor of craniocervical region;tumor of head and neck;tumor of the head and neck
Head and neck squamous cell carcinoma	EFO_0000181	A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.	HNSCC;SCCHN;Squamous Cell Carcinoma of Head and Neck;craniocervical region squamous cell carcinoma;head and neck squamous cell carcinoma;squamous cell carcinoma of head and neck;squamous cell carcinoma of the head and neck;squamous cell carcinomas of head and neck
Head disease	MONDO_0005042	A disease involving the head.	disease of head;disease or disorder of head;disorder of head;head disease;head disease or disorder
Health trait	EFO_0007652	The characteristics in health that a certain person has.	N/A
Hearing abnormality	HP_0000364	An abnormality of the sensory perception of sound.	N/A
Hearing disorder	MONDO_0021945	A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.	hearing disorder
Hearing impairment	HP_0000365	A decreased magnitude of the sensory perception of sound.	Congenital deafness;Congenital hearing loss;Deafness;Hearing defect;Hearing impairment
Hearing loss	EFO_0004238	A general term for the complete or partial loss of the ability to hear from one or both ears.;A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.	hearing impairment;hearing loss;hearing loss disorder;hypoacuses;hypoacusis;loss of hearing;loss, hearing
Heart conduction disease	MONDO_0000992	A cardiovascular system disease that involves the heart's electrical conduction system.	heart rhythm disease
Heart disease	EFO_0003777	A disease involving the heart.;Pathological conditions involving the HEART including its structural and functional abnormalities.	CARDIAC DIS;Cardiac Disease;Cardiac Diseases;Disease, Cardiac;Disease, Heart;Diseases, Cardiac;Diseases, Heart;HEART DIS;Heart Diseases;cardiac disease;disease of heart;disease or disorder of heart;disorder of heart;heart disease;heart disease or disorder;heart disorder;heart trouble
Heart failure	EFO_0003144	Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.	Heart failure (disorder);Heart failure NOS;Heart failure NOS (disorder);Heart failure, unspecified;Heart: [weak] or [failure NOS];Weak heart;cardiac failure;cardiac insufficiency;failure, heart;heart failure;insufficiency, Cardiac
Heart-hand syndrome	Orphanet_228184	Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).	Atriodigital dysplasia
Heart rate	EFO_0004326	The number of times the HEART VENTRICLES contract per unit of time, usually per minute.	cardiac chronotropy;pulse rate
Heart rate variability measurement	EFO_0008003	Quantification of heart rate variability, the physiological phenomenon of variation in the time interval between heartbeats.	N/A
Heart transplant rejection	EFO_0003046	A body response in rejection to a heart transplant. Your immune system will see your donor heart as a foreign object that's not supposed to be in your body. Your immune system will try to attack your donor heart. Although all people who receive a heart transplant receive immunosuppressants — medications that reduce the activity of the immune system — nearly 25 percent of heart transplant recipients still have some signs of rejection during the first year after transplantation.	N/A
Heart valve disease	EFO_0009551	A disease involving the cardial valve.	cardial valve disease;cardial valve disease or disorder;disease of cardial valve;disease or disorder of cardial valve;disorder of cardial valve;disorder of heart valve;heart valve disease;heart valve disorder;valvular heart disease;valvular heart disorder
Heavy metal poisoning	EFO_1001518	Heavy metal poisoning is the accumulation of heavy metals, in toxic amounts, in the soft tissues of the body. Symptoms and physical findings associated with heavy metal poisoning vary according to the metal accumulated. Many of the heavy metals, such as zinc, copper, chromium, iron and manganese, are essential to body function in very small amounts. But, if these metals accumulate in the body in concentrations sufficient to cause poisoning, then serious damage may occur. The heavy metals most commonly associated with poisoning of humans are lead, mercury, arsenic and cadmium. Heavy metal poisoning may occur as a result of industrial exposure, air or water pollution, foods, medicines, improperly coated food containers, or the ingestion of lead-based paints.;Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.	heavy metal poisoning;toxic effect of heavy metal
Hek293	EFO_0001182	N/A	human embryonic kidney cell
Helicobacter pylori infectious disease	EFO_1000961	Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.	Helicobacter Infections;Helicobacter Pylori Infection;Helicobacter pylori caused disease or disorder;Helicobacter pylori disease or disorder;Helicobacter pylori infectious disease
Hellp syndrome	EFO_0007297	A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.;HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia . If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems.	HELLP Syndrome;HELLP syndrome;HELLP syndrome (disorder);hemolysis, elevated liver enzymes, low platelets in pregnancy;hemolysis-elevated liver enzymes-Low Platelet count syndrome;hemolysis-elevated liver enzymes-low platelets syndrome;syndrome of haemolysis, elevated liver enzymes and low platelet
Hemangioma	EFO_1000635	A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.;A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).	benign hemangioma;hemangioma;hemangioma, benign
Hematocrit	EFO_0004348	The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value.	Ht;packed erythrocyte volume;packed red-cell volume
Hematological disease associated with an acquired peripheral neuropathy	MONDO_0016180	N/A	N/A
Hematological disorder with renal involvement	Orphanet_93614	N/A	N/A
Hematologic disease	EFO_0005803	A disease involving the hematopoietic system.;Disorders of the blood and blood forming tissues.	Hematologic Diseases;blood disease;blood disorder;blood dyscrasia;disease of hematopoietic system;disease of the blood and blood-forming organs;disease or disorder of hematopoietic system;disorder of hematopoietic system;haematological system disease;haematological system disorder;hematologic and lymphocytic disorder;hematologic disease;hematologic disorder;hematological disease;hematological disorder;hematological system disease;hematological system disorder;hematopoietic disease;hematopoietic system disease;hematopoietic system disease or disorder
Hematopoietic and lymphoid cell neoplasm	MONDO_0044881	A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.	HEMOLYMPHORETICULAR tumor, malignant;hematologic cancer;hematologic malignancy;hematologic neoplasm;hematological neoplasm;hematological tumor;hematopoietic and lymphoid cell neoplasm;hematopoietic and lymphoid neoplasms;hematopoietic cancer;hematopoietic cell tumor;hematopoietic malignancy, NOS;hematopoietic neoplasm;hematopoietic neoplasms including Lymphomas;hematopoietic tumor;hematopoietic, Including myeloma;malignant hematologic neoplasm;malignant hematopoietic neoplasm
Hematopoietic and lymphoid system neoplasm	MONDO_0002334	Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003	blood neoplasm (disease);blood tumor;hematologic neoplasm;hematological tumors;hematopoietic and lymphoid system neoplasm;hematopoietic and lymphoid system tumor;hematopoietic neoplasm;hematopoietic neoplasm (morphologic abnormality);hematopoietic system neoplasm;hematopoietic system tumor;hematopoietic tumors;malignant hematopoietic neoplasm;neoplasm of blood;neoplasm of hematopoietic system;tumor of blood;tumor of hematopoietic system
Hemifacial microsomia	Orphanet_141136	N/A	First branchial arch syndrome;Laterofacial microsomia;Otomandibular dysostosis;Otomandibular syndrome
Hemoglobin measurement	EFO_0004509	Hemoglobin measurement is a measure of the quantity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia.;hemoglobin levels	Hb;haemoglobin measurement;hemoglobin count
Hemoglobinopathy	Orphanet_68364	N/A	N/A
Hemophagocytic syndrome	MONDO_0015540	Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).	HLH;HPS;hemophagocytic lymphohistiocytosis;hemophagocytic syndrome
Hemophilia a	Orphanet_98878	Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.	Factor VIII deficiency;Subhemophilia;congenital factor VIII disorder;factor VIII deficiency;hemophilia A;hemophilia type A;hemophilia type a;hereditary Factor VIII deficiency;hereditary Factor VIII deficiency disease
Hemophilia	Orphanet_448	Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.	N/A
Hemorrhagic disease	MONDO_0002243	Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).	bleeding diathesis;bleeding disorder;bleeding predisposition;bleeding tendency;hemorrhagic diathesis;hemorrhagic disease
Hemorrhagic disorder due to a coagulation factors defect	MONDO_0016628	N/A	N/A
Hemorrhagic disorder due to an acquired platelet anomaly	MONDO_0016631	N/A	rare bleeding disorder due to an acquired platelet anomaly;rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia;rare coagulopathy due to an acquired platelet anomaly;rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia;rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia
Hemorrhagic disorder due to a platelet anomaly	MONDO_0016629	N/A	rare bleeding disorder due to a platelet anomaly;rare bleeding disorder due to a thrombopathy and/or thrombocytopenia;rare coagulopathy due to a platelet anomaly;rare coagulopathy due to a thrombopathy and/or thrombocytopenia;rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia
Hepadnaviridae infectious disease	EFO_0007301	A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses.;Virus diseases caused by the hepadnaviridae.	Hepadnaviridae Infections;Hepadnaviridae caused disease or disorder;Hepadnaviridae disease or disorder;Hepadnaviridae infectious disease
Hepatic fibrosis	HP_0001395	The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.	N/A
Hepatic schizont	EFO_0002589	A schizont produced in the liver of the vertebrate host.	hepatic schizont stage
Hepatic steatosis	HP_0001397	The presence of steatosis in the liver.	Fatty infiltration of liver;Fatty liver;Liver steatosis;Steatosis
Hepatic vascular disease	MONDO_0002405	A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.	hepatic vascular disorder;liver vascular disorder;vascular disorder of liver
Hepatic veno-occlusive disease	MONDO_0019514	Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.	hepatic Vod;liver veno-occlusive disease;sinusoidal obstruction syndrome;veno-occlusive disease
Hepatitis, alcoholic	EFO_1001345	Acute hepatitis resulting from ingestion of alcohol.;INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS.	acute alcoholic Hepatitis;acute alcoholic hepatitis;acute alcoholic liver disease;alcoholic Hepatitis;alcoholic hepatitis
Hepatitis b infection	EFO_0004197	A viral infection caused by the hepatitis B virus.;INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.	Hepatitis B;Hepatitis B infection;Hepatitis B virus caused hepatitis;Hepatitis B virus hepatitis;hepatitis B;hepatitis B infection;hepatitis B, chronic;hepatitis type B;viral Hepatitis B;viral hepatitis B
Hepatitis c infection	EFO_0003047	A Hepacivirus infectious disease and is_a viral hepatitis that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.;A Hepacivirus infectious disease which is a chronic bloodborne infectious disease caused by Hepatitis C virus. The symptoms include fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain and jaundice.;A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.;A viral infection caused by the hepatitis C virus.	Hepatitis C (disorder);Hepatitis C virus caused hepatitis;Hepatitis C virus hepatitis;Hepatitis non-A non-B (disorder);NANBH;Viral hepatitis C;Viral hepatitis C (disorder);acute hepatitis C with hepatic coma;hepatitis C;hepatitis C infection;hepatitis Nona nonB;hepatitis nonA nonB;hepatitis type C;non-A, non-B Hepatitis;viral hepatitis C
Hepatitis e	EFO_0007303	A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice.;Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.	Hepatitis E;Hepatitis E virus caused hepatitis;Hepatitis E virus hepatitis;hepatitis E;hepatitis type E
Hepatitis	HP_0012115	Inflammation of the liver.	Liver inflammation
Hepatitis virus-related hepatocellular carcinoma	EFO_0008505	A hepatocellular carcinoma that develops following hepatitis virus exposure and injury of the liver parenchyma.	hepatitis virus-related hepatocellular cancer
Hepatobiliary disease	MONDO_0002515	A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.	disease of hepatobiliary system;disease or disorder of hepatobiliary system;disorder of hepatobiliary system;hepatobiliary disorder;hepatobiliary system disease;hepatobiliary system disease or disorder;liver and biliary disease;liver and biliary disorder;liver and biliary system disorder;liver and biliary tract disease
Hepatobiliary neoplasm	EFO_0008550	A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.	Hepatic and Biliary Neoplasms;Hepatic and Biliary Tumors;Hepatic, Biliary, and Gallbladder Neoplasms;Hepato-Biliary Neoplasm;Hepato-Biliary Tumor;Hepatobiliary Tumor;Hepatobiliary Tumors;Liver and Biliary Neoplasm;Liver and Biliary System Neoplasm;hepatic and biliary neoplasms;hepatic and biliary tumors;hepatic, biliary, and gallbladder neoplasms;hepato-biliary neoplasm;hepato-biliary tumor;hepatobiliary neoplasm;hepatobiliary system neoplasm;hepatobiliary system neoplasm (disease);hepatobiliary system tumor;hepatobiliary tumor;hepatobiliary tumors;liver and biliary neoplasm;liver and biliary system neoplasm;neoplasm of hepatobiliary system;tumor of hepatobiliary system
Hepatoblastoma	EFO_1000292	A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well.;Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy (see these terms).	HBL;hepatoblastoma;hepatoblastoma, malignant;pediatric embryonal hepatoma;pediatric hepatoblastoma
Hepatocellular carcinoma	EFO_0000182	A malignant tumor that arises from hepatocytes.  Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia.  Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children.  Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis.  Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma.  Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement.  Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors).  Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung.  The overall median survival of untreated liver cell carcinoma is about 4 months.  The most effective treatment of hepatocellular carcinoma is complete resection of the tumor.  Lately, an increasing number of tumors have been treated with liver transplantation. --2002;A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.;A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.	Carcinoma of Liver Cells;Carcinoma of the Liver Cells;Carcinoma, Hepatocellular;Carcinomas, Hepatocellular;HCC;Hepatocellular Carcinomas;Hepatoma;Hepatomas;Liver Cell Carcinoma;Liver Cell Carcinoma, Adult;Primary Carcinoma of Liver Cells;Primary Carcinoma of the Liver Cells;cancer, hepatocellular;carcinoma of liver;carcinoma of liver cells;carcinoma of the liver cells;carcinoma, hepatocellular, malignant;hepatocellular adenocarcinoma;hepatocellular cancer;hepatocellular carcinoma;hepatoma;liver and intrahepatic bile duct carcinoma;liver carcinoma;liver cell cancer (hepatocellular carcinoma);liver cell carcinoma;primary carcinoma of liver cells;primary carcinoma of the liver cells
Her2 positive breast carcinoma	EFO_1000294	A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).	ERBB2 Overexpressing subtype of breast carcinoma;HER2 Overexpressing breast carcinoma;HER2 Overexpressing subtype of breast carcinoma;HER2 Positive breast cancer;HER2 positive breast carcinoma;Her2-receptor positive breast cancer
Her2-receptor negative breast cancer	MONDO_0000618	N/A	N/A
Hereditary amyloidosis	MONDO_0018634	Hereditary amyloidosis refers toa group of inherited conditions that make up one of the subtypes of amyloidosis .Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid inmultiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.	amyloidosis, Familial;hereditary amyloidosis (disease)
Hereditary ataxia	EFO_0009671	A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS.;Cerebellar ataxia that is transmitted from parent to child.	hereditary ataxia;hereditary cerebellar ataxia;rare hereditary ataxia
Hereditary breast cancer	Orphanet_227535	N/A	Familial breast cancer;Familial breast carcinoma;Hereditary breast carcinoma
Hereditary connective tissue disorder	MONDO_0023603	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.	connective tissue hereditary disorder;hereditary connective tissue disorder
Hereditary diffuse gastric adenocarcinoma	MONDO_0007648	An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.	FDGC;HDGC;familial diffuse cancer of stomach;familial diffuse gastric cancer;hereditary diffuse cancer of stomach;hereditary diffuse gastric adenocarcinoma;hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Orphanet_313808	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.	ALSP;Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia;Autosomal dominant leukoencephalopathy with neuroaxonal spheroids;FPSG;Familial dementia, Neumann type;Familial progressive subcortical gliosis;GPSC;HDLS;Hereditary diffuse leukoencephalopathy with spheroids;POLD;Pigmentary orthochromatic leukodystrophy;Subcortical gliosis of Neumann
Hereditary gastric cancer	MONDO_0018502	Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).	hereditary cancer of stomach;hereditary gastric cancer
Hereditary glaucoma	Orphanet_359	Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.	N/A
Hereditary hemorrhagic telangiectasia	Orphanet_774	Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.	HHT;Rendu-Osler disease;Rendu-Osler-Weber disease
Hereditary motor and sensory neuropathy	Orphanet_140450	N/A	HMSN
Hereditary nephritis	EFO_0004128	A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.;A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.	hereditary nephritis;nephritis, hereditary
Hereditary nonpolyposis colon cancer	MONDO_0018630	Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.	HNPCC;Hereditary nonpolyposis colorectal cancer (HNPCC);colorectal cancer, hereditary nonpolyposis;familial nonpolyposis colon cancer;familial nonpolyposis colorectal cancer;hereditary nonpolyposis colon cancer;hereditary nonpolyposis colorectal cancer
Hereditary optic neuropathy	Orphanet_98671	N/A	hereditary optic neuropathy
Hereditary palmoplantar keratoderma	Orphanet_79357	N/A	Hereditary PPK;Hereditary keratosis palmoplantaris;Hereditary palmoplantar hyperkeratosis
Hereditary periodic fever syndrome	Orphanet_324924	N/A	N/A
Hereditary poikiloderma	Orphanet_222628	N/A	N/A
Hereditary sensory and autonomic neuropathy	Orphanet_140471	N/A	N/A
Hereditary spastic paraplegia	Orphanet_685	Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.	Familial spastic paraplegia;HSP;Hereditary spastic paraparesis;SPG;Strümpell-Lorrain disease
Hernia	HP_0100790	N/A	N/A
Hernia of the abdominal wall	HP_0004299	The protrusion of abdominal contents through a congenital or acquired defect in the abdominal wall. [ NCI ]	abdominal hernia
Heroin dependence	EFO_0004240	Physical and psychological dependence on the drug heroin.;Strong dependence, both physiological and emotional, upon heroin.	Heroin addiction;heroin abuse;heroin addiction;heroin dependence
Herpes simplex encephalitis	Orphanet_1930	Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.;Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal.	HSE;HSV encephalitis;HSVE;Herpes simplex encephalitis;Herpes simplex meningo-encephalitis;Herpes simplex neuroinvasion;Simplexvirus caused infectious encephalitis;Simplexvirus infectious encephalitis;herpes simplex encephalitis;herpetic encephalitis
Herpes simplex infectious disease	MONDO_0004609	A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)	Herpesvirus hominis disease;Simplexvirus caused disease or disorder;Simplexvirus disease or disorder;Simplexvirus infectious disease
Herpesviridae infectious disease	EFO_0007309	A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses.;Virus diseases caused by the herpesviridae.	Herpesviridae Infections;Herpesviridae caused disease or disorder;Herpesviridae disease;Herpesviridae disease or disorder;Herpesviridae infections;Herpesviridae infectious disease;Herpesvirus infection (disorder);herpesvirus infection
Heschl's gyrus morphology measurement	EFO_0005852	quantification of the morphology (eg thickness and surface area) of Heschl's gyrus, a core region of the auditory cortex with highly variable morphology	N/A
Hidradenitis	MONDO_0002260	An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.	Hydradenitis;apocrine sweat gland;apocrine sweat gland inflammation;inflammation of apocrine sweat gland
Hidradenitis suppurativa	EFO_1000710	A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.;a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like "infections" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's.	Acne inversa, familial;acne inversa;hidradenitis;hidradenitis suppurativa
High density lipoprotein cholesterol measurement	EFO_0004612	The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.	HDL measurement
High grade astrocytic tumor	MONDO_0016680	An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).	high grade astrocytic neoplasm;high grade astrocytic tumor;high-grade astrocytic neoplasm;high-grade astrocytic tumor
High grade malignant neoplasm	MONDO_0020665	N/A	high grade malignant neoplasm
High grade ovarian serous adenocarcinoma	EFO_1001958	A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.	N/A
Hilar cholangiocarcinoma	EFO_1001959	A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.	Klatskin tumor;Klatskin's tumor;cholangiocarcinoma of hilar portion of hepatic duct;hilar CC;hilar CCA;hilar cholangiocarcinoma;hilar portion of hepatic duct cholangiocarcinoma;perihilar extrahepatic bile duct carcinoma
Hip bone mineral density	EFO_0007702	mineral density of the hip bone	N/A
Hip circumference	EFO_0005093	circumferential measurement of the largest part of the hip	N/A
Hippocampal atrophy	EFO_0005039	Atrophy of the hippocampus as a result of some external stress or disease	N/A
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	Orphanet_2153	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	Al Gazali-Donnai-Muller syndrome
Hirschsprung disease	Orphanet_388	Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.	Aganglionic megacolon;Congenital intestinal aganglionosis;HSCR
Histiocytoid hemangioma	MONDO_0003119	A hemangioma characterized by the presence of epithelioid endothelial cells.	angiolymphoid hyperplasia with eosinophilia;epithelioid haemangioma;epithelioid hemangioma;epithelioid hemangioma (morphologic abnormality)
Hiv-1 infection	EFO_0000180	The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.	HIV-1 seropositive;Human Immunodeficiency Virus 1;Human Immunodeficiency Virus, Type 1
Hiv-associated lipodystrophy syndrome	EFO_1001348	Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors.	N/A
Hiv-associated neurocognitive disorder	EFO_0007948	HIV-associated neurocognitive disorder (HAND) remains a common complication of HIV infection in the combination antiretroviral therapy (ART) era. Although modern ART has substantially improved life expectancy and reduced the incidence of HIVassociated dementia (HAD), milder forms of HAND remain prevalent, including asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND). The overallprevalence of HAND is 30–50% among unselected HIV-infectedpersons.	HAND
Hiv infection	EFO_0000764	A Lentivirus infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands.;An infection caused by the human immunodeficiency virus.;Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).	HIV - Human immunodeficiency virus infection;HIV INFECT;HIV Infection;HIV Infections;HIV infection;HIV infectious disease;HTLV III INFECT;HTLV III Infections;HTLV III LAV INFECT;HTLV III LAV Infections;HTLV WIII INFECTIONS;HTLV WIII LAV INFECTIONS;HTLV-III Infection;HTLV-III Infections;HTLV-III-LAV Infection;HTLV-III-LAV Infections;HUMAN IMMUNO VIRUS DIS;HUMAN IMMUNOdeficiency VIRUS [HIV] INFECTION;Human immunodeficiency virus [HIV] disease;Human immunodeficiency virus caused disease or disorder;Human immunodeficiency virus disease;Human immunodeficiency virus disease (disorder);Human immunodeficiency virus disease or disorder;Human immunodeficiency virus infection;Human immunodeficiency virus infection (disorder);Human immunodeficiency virus infection, NOS;Human immunodeficiency virus infectious disease;Infection, HIV;Infection, HTLV-III;Infection, HTLV-III-LAV;Infections, HIV;Infections, HTLV-III;Infections, HTLV-III-LAV;LYMPHOTROPIC VIRUS TYPE III INFECTIONS HUMAN T;T LYMPHOTROPIC VIRUS TYPE III INFECT HUMAN;T Lymphotropic Virus Type III Infections, Human;T-Lymphotropic Virus Type III Infections, Human;Unspecified human immunodeficiency virus [HIV] disease (disorder);[X]Human immunodeficiency virus disease;[X]Human immunodeficiency virus disease (disorder);[X]Unspecified human immunodeficiency virus [HIV] disease;[X]Unspecified human immunodeficiency virus [HIV] disease (disorder);human immunodeficiency virus
Hodgkins lymphoma	EFO_0000183	A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.;A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.;Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.	Adult Hodgkin Lymphoma;Disease, Hodgkin;Disease, Hodgkin's;Disease, Hodgkins;Granuloma, Hodgkin;Granuloma, Hodgkin's;Granuloma, Hodgkins;Granuloma, Malignant;HL;HODGKIN DIS;HODGKINS DIS;Hodgkin Granuloma;Hodgkin Lymphoma;Hodgkin Lymphoma, Adult;Hodgkin disease;Hodgkin lymphoma;Hodgkin lymphoma, no ICD-O subtype (morphologic abnormality);Hodgkin sarcoma [obs];Hodgkin's Disease;Hodgkin's Granuloma;Hodgkin's Lymphoma stage III;Hodgkin's Lymphomas;Hodgkin's disease;Hodgkin's disease (disorder);Hodgkin's disease NOS;Hodgkin's disease NOS (& [lymphogranuloma malignant]);Hodgkin's disease NOS (disorder);Hodgkin's disease NOS (morphologic abnormality);Hodgkin's disease NOS of intra-abdominal lymph nodes (disorder);Hodgkin's disease NOS of intrapelvic lymph nodes (disorder);Hodgkin's disease NOS of intrathoracic lymph nodes (disorder);Hodgkin's disease NOS of lymph nodes of axilla and upper limb (disorder);Hodgkin's disease NOS of lymph nodes of head, face and neck (disorder);Hodgkin's disease NOS of lymph nodes of inguinal region and lower limb (disorder);Hodgkin's disease NOS of lymph nodes of multiple sites (disorder);Hodgkin's disease NOS of spleen (disorder);Hodgkin's disease NOS, unspecified site (disorder);Hodgkin's disease of intra-abdominal lymph nodes (disorder);Hodgkin's disease of intrapelvic lymph nodes (disorder);Hodgkin's disease of intrathoracic lymph nodes (disorder);Hodgkin's disease of lymph nodes of axilla and/or upper limb (disorder);Hodgkin's disease of lymph nodes of head, face and/or neck (disorder);Hodgkin's disease of lymph nodes of inguinal region AND/OR lower limb (disorder);Hodgkin's disease of lymph nodes of multiple sites (disorder);Hodgkin's disease of spleen (disorder);Hodgkin's disease, unspecified type;Hodgkin's disease, unspecified type, involving intra-abdominal lymph nodes;Hodgkin's disease, unspecified type, involving intrapelvic lymph nodes;Hodgkin's disease, unspecified type, involving intrathoracic lymph nodes;Hodgkin's disease, unspecified type, involving lymph nodes of axilla and upper limb;Hodgkin's disease, unspecified type, involving lymph nodes of head, face, and neck;Hodgkin's disease, unspecified type, involving lymph nodes of inguinal region and lower limb;Hodgkin's disease, unspecified type, involving lymph nodes of multiple sites;Hodgkin's disease, unspecified type, involving spleen;Hodgkin's disease, unspecified type, unspecified site, extranodal and solid organ sites;Hodgkin's lymphoma;Hodgkin's lymphoma NOS;Hodgkin's sarcoma;Hodgkin's sarcoma (disorder);Hodgkin's sarcoma NOS (disorder);Hodgkin's sarcoma of unspecified site (disorder);Hodgkins Disease;Hodgkins Diseases;Hodgkins Granuloma;Hodgkins lymphoma;Lymphocyte Depletion Hodgkin's Lymphoma;Lymphogranuloma, Malignant;Lymphogranuloma, malignant (morphologic abnormality);Lymphogranulomas, Malignant;Lymphoma, Hodgkin;Lymphoma, Hodgkin's;Malignant Granuloma;Malignant Granulomas;Malignant Lymphogranuloma;Malignant Lymphogranulomas;Mixed Cellularity Hodgkin's Lymphoma;Nodular Lymphocyte Predominant Hodgkin's Lymphoma;Nodular Lymphocyte-Predominant Hodgkin's Lymphoma;Nodular Sclerosing Hodgkin's Lymphoma;Splenic Hodgkins Lymphoma;lymphogranulomatosis;stage I Subdiaphragmatic Hodgkin Lymphoma;stage II Subdiaphragmatic Hodgkin Lymphoma
Holt-oram syndrome	Orphanet_392	Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.	Atriodigital dysplasia type 1;HOS;Heart-hand syndrome type 1
Homa-b	EFO_0004469	The HOMA-B measurement employs the homeostatic model assessment (HOMA)  to quantify beta-cell function.	homeostasis model assessment B cell function
Homocysteine measurement	EFO_0004578	A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of  B12 and/or folate deficiency, and as part of a cardiac risk assessment.	homocysteine levels
Hormone measurement	EFO_0004730	N/A	N/A
Human herpesvirus 8-related tumor	MONDO_0015157	N/A	HHV-8-related disorder
Human papilloma virus infection	EFO_0001668	A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.;An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.	HPV;Human Papilloma Virus Infection;Human Papillomavirus Infection;Human Papillomavirus infection;Human papilloma Virus infection;Human papillomavirus caused disease or disorder;Human papillomavirus disease or disorder;Human papillomavirus infectious disease;human papilloma virus infection
Human prion disease	MONDO_0018926	5%) include iatrogenic CJD and variant CJD (vCDJ).	TSE;transmissible spongiform encephalopathy
Human t-lymphotropic virus 1 infectious disease	EFO_0007316	A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.	HTLV-1 infectious disease;HTLV-I Infections;HTLV-I infectious disease;Human T-lymphotropic virus 1 caused disease or disorder;Human T-lymphotropic virus 1 disease or disorder;Human T-lymphotropic virus 1 infectious disease;human T-lymphotropic virus 1 infectious disease
Huntington disease and related disorders	MONDO_0000167	A grouping for Huntington disease and similar diseases.	N/A
Huntington disease-like syndrome	Orphanet_158266	N/A	Huntington disease phenocopy syndrome
Huntington disease	Orphanet_399	Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.	Huntington chorea
Huvec cell	EFO_0002451	A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages.	HUVEC;human umbilical vein endothelial cell
Hydatidiform mole	EFO_1000298	A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.	hydatid Mole;hydatidiform mole;molar pregnancy
Hydroxy-leucine measurement	EFO_0005276	the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure	X-11787 measurement;hydroxy-isoleucine measurement
Hyperactivity	HP_0000752	N/A	Hyperactive behavior
Hyperalgesia	HP_0031005	Abnormally increased sensitivity to pain.	N/A
Hyperemia	EFO_0003822	The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).;The presence of an increased amount of blood in a part or organ; engorgement.	Active Hyperemia;Arterial Hyperemia;Congestion, Venous;Engorgement, Venous;Hyperemia, Active;Hyperemia, Arterial;Hyperemia, Passive;Hyperemia, Reactive;Hyperemias;Hyperemias, Reactive;Passive Hyperemia;Reactive Hyperemia;Reactive Hyperemias;Venous Congestion;Venous Engorgement
Hyperglycemia	HP_0003074	An increased concentration of glucose in the blood.	High blood glucose;High blood sugar
Hyperhomocysteinemia	DOID_9279	An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.	N/A
Hyperinsulinemic hypoglycaemia	MONDO_0018619	N/A	hyperinsulinemia hypoglycemia
Hyperinsulinism (disease)	MONDO_0002177	Abnormally high levels of insulin in the blood.	hyperinsulinemia;hyperinsulinism
Hyperlipidemia (disease)	MONDO_0021187	N/A	hyperlipidemia
Hyperlipidemia	EFO_0003774	Abnormally high level of lipids in blood.;Conditions with excess LIPIDS in the blood.	Hyperlipemia;Hyperlipemias;Hyperlipidemias;Lipemia;Lipemias;Lipidemia;Lipidemias
Hyperlipoproteinemia type 3	Orphanet_412	Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.	Broad-betalipoproteinemia;Dyslipidemia type 3;Familial dysbetalipoproteinemia;Familial hyperlipoproteinemia type 3;HLP type 3;Hyperlipidemia type 3;Remnant disease
Hypermetropia	HP_0000540	A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation	farsightedness;hyperopia
Hyperparathyroidism	EFO_0008506	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary.;Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.	hyperparathyroidism
Hyperpituitarism	EFO_1000973	Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA.;Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.	Hyperpituitarism;hyperpituitarism
Hyperplasia	EFO_0000536	An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement.;An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.	Hyperplastic;hyperplasia;hyperplastic
Hyperprolactinemia	EFO_0007319	Abnormally high level of prolactin in the blood.;An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.	Chiari-Frommel Syndrome;Chiari-Frommel syndrome;Pregnancy-related A-G syndrome (disorder);hyperprolactinaemia;hyperprolactinemia;hyperprolactinemia (disease)
Hypersensitivity reaction disease	EFO_1002003	An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.;An immune system disease that has material basis in abnormal immune responses, usually to allergens such as insect venom, dust mites, pollen, drugs or some foods.	allergic reaction;hypersensitive;hypersensitivity;hypersensitivity reaction;hypersensitivity reaction disease;sensitive;sensitivity
Hypertension	EFO_0000537	Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.;Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.	(hypertensive disease) or (hypertension);Blood Pressure, High;Blood Pressures, High;HTN;HTN - hypertension;HYPERTENSIVE DISEASE;High Blood Pressure;High Blood Pressures;High blood pressure (& [essential hypertension]);Hypertensive disease (disorder);Hypertensive disease NOS (disorder);SURG COMP - HYPERTENSION;[X]Hypertensive diseases;[X]Hypertensive diseases (disorder);blood pressure, high;blood pressure, increased;high blood pressure;hyperpiesia;hypertension NOS;hypertensive disease;hypertensive disease NOS;hypertensive disorder;increased blood pressure;pressure, high blood;vascular hypertensive disorder
Hypertension, pregnancy-induced	MONDO_0024664	A hypertensive disorder that develops during pregnancy.	hypertension associated disorders of pregnancy;hypertension-associated pregnancy disorder;pregnancy-induced hypertension
Hyperthyroidism	EFO_0009189	Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.;Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [ NCI ]	hyperthyroidism;overactive thyroid
Hypertonia	HP_0001276	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.	N/A
Hypertrophic cardiomyopathy	EFO_0000538	A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.;A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).	Asymmetric Septal Hypertrophies;Asymmetric Septal Hypertrophy;Cardiomyopathies, Hypertrophic;Cardiomyopathies, Hypertrophic Obstructive;Cardiomyopathy, Hypertrophic Obstructive;Cardiomyopathy, hypertrophic;HCM;HCM - Hypertrophic cardiomyopathy;HOCM - Hypertrophic obstructive cardiomyopathy;HYPERTR OBSTR CARDIOMYOP;Hypertrophic Cardiomyopathies;Hypertrophic Obstructive Cardiomyopathies;Hypertrophic Obstructive Cardiomyopathy;Hypertrophic cardiomyopathy (disorder);Hypertrophic obstructive cardiomyopathy (disorder);Hypertrophies, Asymmetric Septal;Hypertrophy, Asymmetric Septal;IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS;IHSS;IHSSs;Idiopathic Hypertrophic Subaortic Stenosis;Idiopathic Hypertrophic Subvalvular Stenosis;Obstructive Cardiomyopathies, Hypertrophic;Obstructive Cardiomyopathy, Hypertrophic;Obstructive cardiomyopathy;Primary hypertrophic cardiomyopathy;SUBVALV STENOSIS;SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC;Septal Hypertrophies, Asymmetric;Septal Hypertrophy, Asymmetric;Subvalvular Stenosis, Idiopathic Hypertrophic;hyper. obst. cardiomyopathy;hypertrophic cardiomyopathy;hypertrophic myocardiopathy;hypertrophic obstructive cardiomyopathy;hypertrophic subaortic stenosis;obstructive hypertrophic cardiomyopathy;primary hypertrophic cardiomyopathy (disorder) [Ambiguous]
Hypertrophy	EFO_0002460	Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells.	N/A
Hyperuricemia	HP_0002149	An abnormally high level of uric acid in the blood.	High blood uric acid level;Hyperuricaemia
Hypnic headache (disease)	MONDO_0017181	Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.	hypnic headache
Hypogonadism	MONDO_0002146	A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.	gonadotropin deficiency;hypogonadotropism
Hypogonadotropic hypogonadism	MONDO_0018555	Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.	Normosmic idiopathic hypogonadotropic hypogonadism;central hypogonadism;gonadotropic deficiency;hypogonadism, hypogonadotropic;hypogonadotropic hypogonadism;hypogonadotropic hypogonadism with or without anosmia;hypogonadotropism;low gonadotropins (secondary hypogonadism);nIHH;normosmic congenital hypogonadotropic hypogonadism;secondary hypogonadism
Hypohidrotic ectodermal dysplasia	Orphanet_238468	Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms).	Anhidrotic ectodermal dysplasia;HED
Hypoparathyroidism	EFO_0009451	Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ];Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism , metabolic alkalosis , DiGeorge syndrome , and type I polyglandular autoimmune syndrome . The goal of treatment is to restore the calcium and mineral balance in the body.	hypoparathyroidism
Hypopharyngeal carcinoma	EFO_0002938	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.	cancer of Hypopharynx;cancer of hypopharynx;cancer of the hypopharynx;carcinoma of hypopharynx;carcinoma of the hypopharynx;hypopharyngeal cancer;hypopharyngeal carcinoma;hypopharyngeal throat cancer;hypopharynx carcinoma
Hypopharyngeal squamous cell carcinoma	EFO_1001960	A squamous cell carcinoma arising from the hypopharynx.;A squamous cell carcinoma that involves the hypopharynx.	epidermoid carcinoma of hypopharynx;epidermoid carcinoma of the hypopharynx;hypopharyngeal epidermoid carcinoma;hypopharyngeal squamous cell cancer;hypopharyngeal squamous cell carcinoma;hypopharyngeal throat squamous cell cancer;hypopharynx squamous cell carcinoma;squamous cell carcinoma of hypopharynx
Hypopharynx cancer	EFO_0007321	A pharynx cancer that is located_in the hypopharynx.;A primary or metastatic malignant neoplasm that affects the hypopharynx.	Hypopharyngeal Neoplasms;Hypopharyngeal cancer;hypopharyngeal cancer;hypopharynx cancer;hypopharynx pharynx cancer;hypural pharynx cancer;malignant Hypopharyngeal tumor;malignant hypopharyngeal neoplasm;malignant hypopharyngeal tumor;malignant neoplasm of hypopharynx;malignant neoplasm of hypopharynx NOS;malignant neoplasm of hypopharynx NOS (disorder);malignant neoplasm of hypopharynx, NOS;malignant neoplasm of ill-defined sites within the lip and oral cavity;malignant neoplasm of other specified hypopharyngeal site;malignant neoplasm of other specified hypopharyngeal site (disorder);malignant neoplasm of other specified sites of hypopharynx;malignant neoplasm of posterior hypopharyngeal wall;malignant neoplasm of posterior wall of hypopharynx;malignant neoplasm of the hypopharynx;malignant tumor of hypopharynx;malignant tumor of hypopharynx (disorder);malignant tumor of posterior wall of hypopharynx;malignant tumor of posterior wall of hypopharynx (disorder);malignant tumor of the hypopharynx;malignant tumour of hypopharynx;pharynx cancer of hypopharynx
Hypoplasia of right ventricle	HP_0004762	Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.	Heart right ventricle hypoplasia;Small right heart chamber;Underdeveloped right heart chamber
Hypospadias	EFO_0004209	A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.;Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.	familial hypospadias;hypospadias;hypospadias (disease)
Hypothalamic disease	MONDO_0002150	Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.	disease of hypothalamus;disease or disorder of hypothalamus;disorder of hypothalamus;hypothalamus disease;hypothalamus disease or disorder
Hypothalamic neoplasm	EFO_1000979	A primary or metastatic neoplasm that affects the hypothalamus.;Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)	Hypothalamic Neoplasms;hypothalamic neoplasm;hypothalamic neoplasms;hypothalamic tumor;hypothalamus neoplasm;hypothalamus tumor;neoplasm of hypothalamus;neoplasm of the Hypothalamus;neoplasm of the hypothalamus;tumor of hypothalamus;tumor of hypothalamus (disorder);tumor of the hypothalamus
Hypothermia	HP_0002045	Reduced body temperature due to failed thermoregulation. [ HPO:sdoelken ]	abnormally low body temperature;hypothermia
Hypothyroidism	EFO_0004705	A deficiency of thyroid hormone.;Abnormally low levels of thyroid hormone.	hypothyroidism;thyroid deficiency;thyroid insufficiency;underactive thyroid
Hypotrichosis	MONDO_0003037	A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.	N/A
Hypoxanthine-guanine phosphoribosyltransferase deficiency	Orphanet_206428	Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.	HPRT deficiency;HPRT1 deficiency;Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
Hypoxia	EFO_0009444	A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). [ NCI ]	N/A
Icam-1 measurement	EFO_0004520	A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events.	sICAM-1;soluble ICAM1 measurement;soluble intercellular adhesion molecule-1
Ichthyosis (disease)	MONDO_0019269	A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe.	ichthyoses;ichthyosis
Idiopathic and/or familial pulmonary arterial hypertension	Orphanet_422	Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown .	N/A
Idiopathic cardiomyopathy	EFO_0000767	A disease of the heart muscle or myocardium proper whose cause is unknown.	idiopathic cardiomyopathy
Idiopathic cd4-positive t-lymphocytopenia	EFO_0007322	A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.;A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.	T-Lymphocytopenia, Idiopathic CD4-Positive;idiopathic CD4-positive T-lymphocytopenia
Idiopathic inflammatory myopathy	MONDO_0020122	An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.	IIm;IMM;idiopathic inflammatory myopathies;idiopathic inflammatory myositis
Idiopathic interstitial pneumonia	MONDO_0002429	A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).	IIp;diffuse idiopathic pulmonary fibrosis;idiopathic fibrosing alveolitis;noninfectious pneumonia
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Orphanet_166475	N/A	N/A
Idiopathic pulmonary arterial hypertension	Orphanet_275766	Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.	IPAH;Primary pulmonary arterial hypertension
Idiopathic pulmonary fibrosis	EFO_0000768	Chronic and progressive fibrosis of the lung parenchyma of unknown cause.;Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.	CFA;IPF;UIP;cryptogenic fibrosing alveolitis;fibrocystic pulmonary dysplasia;idiopathic pulmonary fibrosis;idiopathic pulmonary fibrosis, familial;usual interstitial pneumonia
Idiopathic scoliosis	MONDO_0000726	A scoliosis with no known cause.	N/A
Iga glomerulonephritis	EFO_0004194	A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease.;Inflammation of a specific segment of glomeruli within the kidney.	Berger Disease;Berger's Disease;Glomerulonephritis, IGA;IGA Nephropathy;IgA glomerulonephritis;IgA nephropathy;Immunoglobulin A Nephropathy;Nephropathy, IGA;berger's IgA or IgG nephropathy;berger's disease;focal glomerulonephritis;primary IgA nephropathy;segmental glomerulonephritis
Igfbp-1 measurement	EFO_0005118	IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration.	N/A
Igfbp-3 measurement	EFO_0004626	Is the quantification of IGFBP-3, a member of  the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased  IIGFBP3 protein levels are used as a biomarker for prostate cancer progression.	Insulin-Like Growth Factor Binding Protein 3 levels
Ileus	MONDO_0004567	Decrease in peristalsis in the absence of a mechanical bowel obstruction.	ileus of intestine
Image syndrome	Orphanet_85173	IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.	Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
Immune dysregulation disease with immunodeficiency	Orphanet_169361	N/A	N/A
Immune-mediated acquired neuromuscular junction disease	MONDO_0018743	N/A	N/A
Immune system cancer	MONDO_0000621	A malignant neoplasm involving the immune system	cancer of immune system;immune system cancer;malignant immune system neoplasm;malignant neoplasm of immune system
Immune system disease	EFO_0000540	A disorder resulting from an abnormality in the immune system.;A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions.  It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)	AUTOIMMUNE DISEASE NEC;Autoimmune disease, not elsewhere classified;DEFIC CELL IMMUNITY NOS;Deficiency of cell-mediated immunity;Disorder of the immune mechanism NOS;Disorder of the immune mechanism NOS (disorder);Disorders involving the immune mechanism;IMMUNDEF T-CELL DEF NOS;IMMUNE MECHANISM DIS NEC;IMMUNE MECHANISM DIS NOS;Immune System and Related Disorders;Immunodeficiency and Immunosuppression Disorders;Immunodeficiency with predominant T-cell defect, unspecified;Other deficiency of cell-mediated immunity;Other specified disorders involving the immune mechanism;Other specified disorders of the immune mechanism;Other specified disorders of the immune mechanism (disorder);Unspecified disorder of immune mechanism;[X]Disorder involving the immune mechanism, unspecified;[X]Disorder involving the immune mechanism, unspecified (disorder);autoimmune diseases;disease of immune system;disease or disorder of immune system;disorder of immune system;immune disease;immune disorder;immune dysfunction;immune system disease;immune system disease or disorder;immune system disorder
Immunodeficiency disease	MONDO_0021094	Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	immuno-deficiency;immunodeficiency;immunodeficiency disorder
Immunodeficiency due to absence of thymus	Orphanet_331220	N/A	N/A
Immunodeficiency syndrome with autoimmunity	Orphanet_169355	N/A	N/A
Immuno-osseous dysplasia	Orphanet_169349	N/A	N/A
Inborn metal metabolism disorder	MONDO_0004689	An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.	N/A
Inborn mitochondrial metabolism disorder	MONDO_0004069	Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.	mitochondrial disease
Inclusion body myositis	EFO_0007323	A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.;Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.	Distal Myopathy with Rimmed Vacuoles (DMRV);Distal myopathy, Nonaka type;HIBM;Hereditary Inclusion Body Myopathy;IBM;IBM-3;IBM2;Myositis, Inclusion Body;Nonaka Myopathy;Nonaka myopathy;distal myopathy with rimmed vacuoles;distal myopathy with rimmed vacuoles (DMRV);distal myopathy, Nonaka type;hereditary inclusion body myopathy;inclusion body myopathy 2;inclusion body myopathy 3;inclusion body myositis;sIBM;sporadic inclusion body myositis
Increased inflammatory response	HP_0012649	A abnormal increase in the inflammatory response to injury or infection.	N/A
Indolent b-cell non-hodgkin lymphoma	MONDO_0017594	N/A	indolent B-cell NHL
Indolent primary cutaneous t-cell lymphoma	MONDO_0015816	N/A	N/A
Infancy electroclinical syndrome	MONDO_0000413	An electroclinical syndrome with onset in infancy occurring between birth and one year of age.	N/A
Infant body height	EFO_0006785	The distance from the sole to the crown of the head of an infant, which can be used as a proxy for skeletal growth in early life	infant length
Infant expressive language ability	EFO_0006316	mental process necessary for language acquisition in infancy	N/A
Infant grey matter volume measurement	EFO_0008368	quantification of the volume of grey matter in an infant's brain	N/A
Infantile epilepsy syndrome	Orphanet_98258	N/A	N/A
Infantile epileptic encephalopathy	EFO_1000643	an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized.	N/A
Infantile hypertrophic pyloric stenosis	EFO_0004707	An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.;This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition.	IHPS;congenital Hypertrophy of the pylorus;congenital constriction of the pylorus;congenital hypertrophic pyloric stenosis;congenital or infantile stricture of pylorus;congenital pyloric stenosis;congenital stricture of the pylorus;hypertrophic pyloric stenosis;infantile Hypertrophy of the pylorus;infantile constriction of the pylorus;infantile hypertrophic pyloric stenosis;infantile pyloric stenosis;infantile stricture of the pylorus;pyloric stenosis, infantile
Infantile spasms	HP_0012469	Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).	N/A
Infection	EFO_0000544	The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism.	N/A
Infectious disease	EFO_0005741	A disease whose physical basis is an infectious agent;A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact.	ID;clinical infection;disease by infectious agent;disorder due to infection;infection;infectious;infectious disease;infectious diseases and manifestations;infectious disorder;root caused disease or disorder;root disease or disorder;root infectious disease;transmissible disease
Infectious disease of the nervous system	MONDO_0020010	A infectious disease that involves the nervous system.	nervous system infectious disease;nervous system infectious disorder
Infectious disease with dementia	MONDO_0020141	N/A	N/A
Infectious disease with epilepsy	MONDO_0015659	N/A	N/A
Infectious disease with peripheral neuropathy	MONDO_0016104	An infectious process affecting the peripheral nerves.	peripheral nerve infection;peripheral nervous system infectious disorder
Infectious embryofetopathy	MONDO_0016511	N/A	N/A
Infectious encephalitis	MONDO_0020067	An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.	encephalitis infection
Infectious meningitis	EFO_0000584	A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.;Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.;Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.	Infectious Meningitis;MENINGITIS NOS;Meningitides;Meningitis;Meningitis (disorder);Meningitis of unspecified cause;Meningitis of unspecified cause (disorder);Meningitis, NOS;Meningitis, unspecified;Pachymeningitides;Pachymeningitis;Unspecified meningitis;Unspecified meningitis (disorder);infectious meningitis;infective meningitis;meningitis due to organism
Infertility	EFO_0000545	Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.;Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.	Infertile;Infertile (finding);Reproductive Sterility;Sterile;Sterility;Sterility, Reproductive;fertility disorders;infertile;infertility disorder;sterile;sterility
Inflammation of heart layer	MONDO_0024636	An inflammatory disease involving a pathogenic inflammatory response in the heart layer.	carditis;heart layer inflammation
Inflammatory abnormality of the skin	HP_0011123	The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.	abnormal tendency to infections of the skin;inflammatory abnormality of the skin;skin inflammation
Inflammatory and autoimmune disease with epilepsy	MONDO_0015657	N/A	N/A
Inflammatory bowel disease	EFO_0003767	A spectrum of small and large bowel inflammatory diseases of unknown etiology.  It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011];A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.	Bowel Diseases, Inflammatory;IBD;INFLAMM BOWEL DIS;Inflammatory Bowel Diseases;autoimmune bowel disorder;inflammatory bowel disease
Inflammatory disease	EFO_0009903	A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ];An inflammatory disease involving a pathogenic inflammatory response in the anatomical structure.	anatomical structure inflammation;inflammation of anatomical structure;inflammatory disease;inflammatory disorder
Inflammatory skin disease	EFO_1000636	Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complicationsThese disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual. ;Inflammatory skin disorders covers a broad category that includes many conditions ranging in severity, from mild itching to grave medical health complications. These disorders are common in people of all ages and races. They are characterized by irritation and inflammation of the skin. These diseases may sometimes be disfiguring and can cause great discomfort to the affected individual.	inflammatory skin disease;inflammatory skin diseases;inflammatory skin disorder;inflammatory skin disorders
Influenza a (h1n1)	EFO_1001488	Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe.	N/A
Influenza	EFO_0007328	A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.;An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.	Influenza with non-respiratory manifestation (disorder);Influenza with other manifestations;Influenza with other manifestations (disorder);Influenza with other manifestations NOS (disorder);Influenza, Human;flu;influenza;influenza infection;influenza with non-respiratory manifestation
Information processing speed	EFO_0004363	time taken to analyse or transform input information in order to produce information as output	processing speed
Infratentorial cancer	MONDO_0003107	Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.	brain neoplasm, infratentorial;infratentorial neoplasms, malignant;malignant infratentorial neoplasm;malignant infratentorial tumor;malignant infratentorial tumors
Infratentorial neoplasm	MONDO_0037736	A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.	brain neoplasms, infratentorial;infratentorial neoplasm;infratentorial neoplasms;infratentorial tumor;infratentorial tumors;neoplasms, infratentorial
Inguinal hernia	HP_0000023	Protrusion of the contents of the abdominal cavity through the inguinal canal.	N/A
Inherited amino acid metabolic disorder	MONDO_0004736	An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.	inborn cellular amino acid metabolic process disorder;inborn error of amino acid metabolism;inborn error of cellular amino acid metabolic process;inborn errors of amino acid metabolism;rare inborn error of cellular amino acid metabolic process
Inherited aplastic anemia	MONDO_0001713	An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.	congenital hypoplastic anemia;constitutional aplastic anemia;hereditary aplastic anemia
Inherited auditory system disease	MONDO_0037940	An instance of auditory system disease that is caused by an inherited modification of the individual's genome.	auditory system hereditary disorder;hereditary auditory system disease
Inherited cancer-predisposing syndrome	Orphanet_140162	The inherited predisposition toward getting a tumor.	cancer syndrome, hereditary;cancer syndromes, hereditary;familial neoplastic syndrome;familial tumor syndrome;hereditary cancer syndrome;hereditary cancer syndromes;hereditary neoplastic syndrome;hereditary neoplastic syndromes;hereditary tumor syndrome;inherited cancer syndrome;inherited cancer-predisposing syndrome;neoplastic syndrome, hereditary;syndrome, hereditary cancer;syndrome, hereditary neoplastic;syndromes, hereditary cancer;syndromes, hereditary neoplastic
Inherited digestive cancer-predisposing syndrome	MONDO_0018538	N/A	N/A
Inherited genetic disease	MONDO_0003847	A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.	genetic condition;genetic disorder;hereditary disease;hereditary disease or disorder;hereditary diseases;inherited disease;molecular disease
Inherited hemoglobinopathy	MONDO_0019050	An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.	Hemoglobinopathies / iron metabolism;hemoglobinopathies;hereditary hemoglobinopathy
Inherited ichthyosis	Orphanet_183435	N/A	Genetic ichthyosis
Inherited ichthyosis syndromic form	Orphanet_281085	N/A	N/A
Inherited nervous system cancer-predisposing syndrome	MONDO_0016756	N/A	N/A
Inherited neuroendocrine tumor	MONDO_0025511	An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome.	hereditary neuroendocrine neoplasm
Inherited prion disease	MONDO_0017234	An instance of prion disease that is caused by an inherited modification of the individual's genome.	familial prion disease;hereditary prion disease
Inherited renal cancer-predisposing syndrome	Orphanet_319328	N/A	N/A
Initial pursuit acceleration	EFO_0008434	Quantification of the rate of change of eye velocity during the first 100ms of pursuit, typically measured using a video-based eye-tracker. Abnormalities of this sysmtem have been observed in psychiatric disorders such as schizophrenia.	N/A
Injury	EFO_0000546	Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.	Trauma;Wound;injury;trauma;traumatic injury;wound
Inner ear disease	EFO_0009672	A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.;A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. [database_cross_reference: NCIT:C27166]	disease of internal ear;disease or disorder of internal ear;disorder of internal ear;inner Ear disorder;inner ear disease;internal Ear disorder;internal ear disease;internal ear disease or disorder;labyrinthine disease
In situ carcinoma	MONDO_0004647	A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.	carcinoma in situ;carcinoma, in situ, malignant;epithelial tumor, in situ, malignant;intraepithelial carcinoma;non-invasive carcinoma;stage 0 disease
Insomnia measurement	EFO_0007876	quantification of insomnia such as how often it occurs and its severity	N/A
Insulin measurement	EFO_0004467	An insulin measurement is a measure of insulin typically performed in the diagnosis of patients	insulin level
Insulinoma	EFO_0000549	A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.;A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.;An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.	Adenoma, beta Cell;Adenoma, beta-Cell;Adenomas, beta-Cell;Beta Cell Neoplasm;Beta Cell Neoplasm of Pancreas;Beta Cell Neoplasm of the Pancreas;Beta Cell Tumor;Beta Cell Tumor of Pancreas;Beta Cell Tumor of the Pancreas;Beta cell adenoma;Beta cell tumor;Beta cell tumor of pancreas;Beta cell tumor of the pancreas;Insulin-Producing Islet Cell Neoplasm;Insulin-Producing Islet Cell Tumor;Insulin-Producing Neoplasm of Islet Cells;Insulin-Producing Neoplasm of the Islet Cells;Insulin-Producing Tumor of Islet Cells;Insulin-Producing Tumor of the Islet Cells;Insulinoma (disorder);Insulinoma (morphologic abnormality);Insulinoma NOS (morphologic abnormality);Insulinoma, NOS;Insulinomas;Insuloma;Insulomas;Pancreatic Beta Cell Tumor;Pancreatic Insulin Producing Neoplasm;Pancreatic Insulin Producing Tumor;Pancreatic Insulin-Producing Neuroendocrine Tumor;Tumor, beta-Cell;Tumors, beta-Cell;[M]Insulinoma NOS;[M]Insulinoma NOS (morphologic abnormality);beta cell neoplasm;beta cell tumor of the pancreas;beta-Cell Adenoma;beta-Cell Adenomas;beta-Cell Tumor;beta-Cell Tumors;insulin-producing islet cell tumor;insulin-producing tumor of islet cells;insulin-producing tumor of the islet cells;pancreatic Beta cell tumor;pancreatic insulin producing NET;pancreatic insulin producing neoplasm;pancreatic insulin producing tumor;pancreatic insulin-producing neuroendocrine tumor;pancreatic insulin-producing tumor
Insulin resistance	EFO_0002614	diminished effectiveness of insulin in lowering plasma glucose levels	Drug resistance to insulin (disorder)
Insulin sensitivity measurement	EFO_0004471	An insulin sensitivity measurement is a measurement of insulin metabolism, which can be measured in a number of ways, for example using the HOMA model or via a glucose tolerance test.	insulin sensitivity test
Integumentary system benign neoplasm	MONDO_0000652	A benign neoplasm that involves the integumental system.	integumental system benign neoplasm
Integumentary system cancer	MONDO_0000653	A malignant neoplasm involving the integumental system	cancer of integumental system;integumental system cancer;malignant integumental system neoplasm;malignant neoplasm of integumental system
Integumentary system disease	MONDO_0002051	A disease involving the integumental system.	disease of integumental system;disease or disorder of integumental system;disorder of integumental system;integumental system disease;integumental system disease or disorder;integumentary disease
Intellectual disability	DOID_1059	A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Intelligence	EFO_0004337	The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.	cognitive ability;general cognitive ability;general cognitive function
Intercellular adhesion molecule 5 measurement	EFO_0008164	quantification of the amount of intercellular adhesion molecule 5 in a sample	N/A
Interferon gamma measurement	EFO_0008165	quantification of the amount of interferon gamma in a sample	N/A
Interleukin 10 measurement	EFO_0004750	Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells.;interleukin 10 levels	N/A
Interleukin 12 measurement	EFO_0004753	Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation.	N/A
Interleukin 13 measurement	EFO_0008171	quantification of the amount of interleukin 13 in a sample	N/A
Interleukin 16 measurement	EFO_0008173	quantification of the amount of interleukin 16 in a sample	N/A
Interleukin 17 measurement	EFO_0008174	quantification of the amount of interleukin 17 in a sample	N/A
Interleukin 17 receptor a measurement	EFO_0008175	quantification of the amount of interleukin 17 receptor A in a sample	N/A
Interleukin 18 measurement	EFO_0004581	An IL-18 measurement is the quantification of IL-18, typically in blood.	IL-18 levels;IL-18 measurement;Interleukin-18 levels
Interleukin-1 beta measurement	EFO_0004812	Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response.	interleukin 1 beta measurement
Interleukin 1 receptor antagonist measurement	EFO_0004754	Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure	N/A
Interleukin 23 receptor measurement	EFO_0008181	quantification of the amount of interleukin 23 receptor in a sample	N/A
Interleukin 2 measurement	EFO_0008331	quantification of the amount of interleukin 2 in a sample	N/A
Interleukin 2 receptor antagonist measurement	EFO_0008332	quantification of the amount of interleukin 2 receptor antagonist in a sample	N/A
Interleukin 5 measurement	EFO_0008185	quantification of the amount of interleukin 5 in a sample	N/A
Interleukin-6 measurement	EFO_0004810	Is a quantification of interleukin-6, a  pro-inflammatory and anti-inflammatory cytokine.	IL-6 level;IL-6 levels;IL-6 measurement
Interleukin 6 receptor subunit alpha measurement	EFO_0008187	quantification of the amount of interleukin 6 receptor subunit alpha in a sample	N/A
Interleukin 7 measurement	EFO_0008189	quantification of the amount of interleukin 7 in a sample	N/A
Interleukin 9 measurement	EFO_0008192	quantification of the amount of interleukin 9 in a sample	N/A
Intermediate coronary syndrome	EFO_1000985	Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.;Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION.	(Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction);Angina at rest;Angina, Unstable;Anginal chest pain at rest;Impending infarction (disorder);Preinfarction angina;Preinfarction angina (disorder);Unstable angina;Worsening angina;angina at rest;anginal chest pain at rest;impending infarction;intermediate coronary syndrome;unstable angina;worsening angina
Intermittent vascular claudication	EFO_0003876	A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE.;A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.	Charcot's syndrome;Claudication, Intermittent;Intermittent Claudication;intermittent claudication;intermittent vascular claudication
Internal carotid artery stenosis	EFO_0002615	Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.	ICA - Internal carotid artery stenosis;Internal carotid artery stenosis (disorder);internal carotid artery stenosis
Interstitial cardiac fibrosis	HP_0031329	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.	N/A
Interstitial cystitis	EFO_0008507	Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.;Interstitial cystitis, or bladder pain syndrome, is a debilitating chronic disease characterized by discomfort or recurrent abdominal and pelvic pains in the absence of urinary tract infections.	IC/BPS;IC/PBS;bladder pain syndrome;chronic interstitial cystitis;interstitial cystitis;interstitial cystitis, chronic;interstitial cystitis/bladder pain syndrome;interstitial cystitis/painful bladder syndrome;painful bladder syndrome;ulcerative cystitis
Interstitial lung disease	EFO_0004244	A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.;A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.	ILD;interstitial lung disease;lung disease, interstitial;lung diseases, interstitial
Interstitial lung disease in childhood and adulthood	MONDO_0017030	N/A	ILD in childhood and adulthood
Interstitial lung disease specific to adulthood	MONDO_0017026	N/A	ILD specific to adulthood
Interstitial lung disease specific to childhood	MONDO_0017014	A interstitial lung disease that occurs during childhood.	ILD specific to childhood;childhood interstitial lung disease;interstitial lung disease of childhood;pediatric interstitial lung disease
Interstitial nephritis	MONDO_0001085	Inflammation of the renal tubules and supporting tissues of the kidney.	Tubulointerstitial nephritis;renal tubulo-interstitial disease
Intervertebral disc displacement	EFO_1001800	An INTERVERTEBRAL DISC in which the nucleus pulposus has protruded through surrounding fibrocartilage. This occurs most frequently in the lower lumbar region.	displacement of intervertebral disc
Intestinal cancer	EFO_0007330	A gastrointestinal system cancer that is located_in the intestine.;A malignant neoplasm involving the intestine	bowel cancer;cancer of intestine;cancer of the intestine;intestinal cancer;intestinal neoplasms, malignant;intestinal tumors, malignant;intestine cancer;malignant intestinal neoplasm;malignant intestinal neoplasms;malignant intestinal tumor;malignant intestinal tumors;malignant intestine neoplasm;malignant intestine tumor;malignant neoplasm of intestine;malignant neoplasm of the intestine;malignant tumor of intestine;malignant tumor of the intestine
Intestinal disease	EFO_0009431	A disease that affects the small or large intestine.;A non-neoplastic or neoplastic disorder that affects the small or large intestine.	disease of intestine;disease or disorder of intestine;disorder of intestine;intestinal disease;intestinal disorder;intestine disease;intestine disease or disorder;intestine disorder
Intestinal malformation	Orphanet_97945	N/A	N/A
Intestinal motility disease	MONDO_0021189	A disease that has its basis in the disruption of intestinal motility.	disorder of intestinal motility
Intestinal neoplasm	MONDO_0021118	A benign or malignant neoplasm involving the small or large intestine.	intestinal neoplasm;intestinal neoplasms;intestinal tumor;intestinal tumors;intestine growth;intestine neoplasm;intestine neoplasm (disease);intestine tumor;neoplasm of intestinal tract;neoplasm of intestine;neoplasm of intestines;neoplasm of the intestines;tumor of intestine;tumor of intestines;tumor of the intestines
Intestinal obstruction	MONDO_0004565	Blockage of the normal flow of the intestinal contents within the bowel.	bowel obstruction
Intestinal polyposis syndrome	MONDO_0015185	N/A	N/A
Intestinal schistosomiasis	MONDO_0008412	N/A	N/A
Intracerebral hemorrhage	EFO_0005669	Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.;stroke subtype classified by the rupture of blood vessels in the lobar or nonlobar regions of the brain	intracerebral hemorrhage
Intracranial arterial disease	EFO_1000990	Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.;Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.	Intracranial Arterial Diseases;intracranial arterial disease
Intracranial hemorrhage	EFO_0000551	Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.;Bleeding within the cranium.	Brain Hemorrhage;Brain Hemorrhages;HEMORRHAGE INTRACRANIAL;Hemorrhage, Brain;Hemorrhage, Intracranial;Hemorrhage, Posterior Fossa;Hemorrhages, Brain;Hemorrhages, Intracranial;Hemorrhages, Posterior Fossa;INTRACRANIAL HEMORR NOS;Intracranial Hemorrhage;Intracranial Hemorrhages;Intracranial haemorrhage;Intracranial haemorrhage NOS;Intracranial hemorrhage (disorder);Intracranial hemorrhage, NOS;Posterior Fossa Hemorrhage;Posterior Fossa Hemorrhages;Unspecified intracranial hemorrhage;intracranial hemorrhage;intracranial hemorrhage NOS (disorder)
Intracranial thrombosis	MONDO_0002907	Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.	cerebral thrombosis
Intraductal breast neoplasm	MONDO_0002488	A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.	intraductal breast neoplasm
Intraductal breast papilloma	EFO_1000306	A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.	N/A
Intrahepatic bile duct cancer	MONDO_0001487	A cancer that involves the intrahepatic bile duct.	Ca intrahepatic bile ducts;cancer of intrahepatic bile duct;malignant intrahepatic bile duct neoplasm;malignant neoplasm of intrahepatic bile duct;malignant neoplasm of intrahepatic bile ducts;malignant neoplasm of intrahepatic biliary passages
Intrahepatic cholangiocarcinoma	EFO_1001961	A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	ICC;Intrahepatic Bile Duct Carcinoma;Intrahepatic Carcinoma of Bile Duct;cholangiocarcinoma, intrahepatic, malignant;intrahepatic Cholangiocellular carcinoma;intrahepatic bile duct cancer (cholangiocarcinoma);intrahepatic bile duct carcinoma;intrahepatic carcinoma of bile duct;intrahepatic carcinoma of the bile duct;intrahepatic cholangiocarcinoma;intrahepatic cholangiocarcinoma (bile duct cancer);peripheral cholangiocarcinoma
Intraocular pressure measurement	EFO_0004695	Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma.	N/A
Intrinsic cardiomyopathy	MONDO_0000591	A cardiomyopathy that is due to abnormalities in heart muscle cells.	primary cardiomyopathy
Iridogoniodysgenesis	Orphanet_98634	N/A	N/A
Iris disease	MONDO_0002289	A disease involving the iris.	disease of iris;disease or disorder of iris;disorder of iris;iris disease;iris disease or disorder;iris disorder
Iron biomarker measurement	EFO_0004461	An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism	iron biomarker level;iron status biomarkers
Iron metabolism disease	MONDO_0002279	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)	disorder of iron metabolism;iron disorder
Irritable bowel syndrome	EFO_0000555	A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.;A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.;Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause.	Adaptive colitis;Colitides, Mucous;Colitis, Mucous;Colon spasm;Colon, Irritable;Functional bowel disease;IBD;IBS;IBS - Irritable bowel syndrome;IC - Irritable colon;Irritable Bowel Syndromes;Irritable Colon;Irritable bowel;Irritable bowel - IBS;Irritable colon (disorder);Irritable colon - Irritable bowel syndrome;Irritable colon syndrome;Membranous colitis;Mucous Colitides;Mucous colitis;Nervous colitis;Psychogenic IBS;Spastic colitis;Spastic colon;Syndrome, Irritable Bowel;Syndromes, Irritable Bowel;[X]Psychogenic IBS;irritable bowel syndrome;irritable colon;mucus colitis;spastic colon
Ischemia	EFO_0000556	A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION.	Ischaemia;Ischaemia, NOS;Ischemia (disorder);Ischemia, NOS;Ischemias
Ischemia reperfusion injury	EFO_0002687	Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.;Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations elicited by ischaemia and reperfusion (I/R). The inflammatory mediators released as a consequence of reperfusion also appear to activate endothelial cells in remote organs that are not exposed to the initial ischaemic insult. This distant response to I/R can result in leukocyte-dependent microvascular injury that is characteristic of the multiple organ dysfunction syndrome. Adaptational responses to I/R injury have been demonstrated that allow for protection of briefly ischaemic tissues against the harmful effects of subsequent, prolonged ischaemia, a phenomenon called ischaemic preconditioning.	ischaemia reperfusion injury;ischemia reperfusion injury;myocardial reperfusion injury
Ischemic cardiomyopathy	EFO_0001425	Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause.	N/A
Ischemic disease	MONDO_0005053	Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.	N/A
Ischemic stroke	HP_0002140	N/A	N/A
Islet cell adenomatosis	MONDO_0007834	A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.	Nesidioblastosis;islet cell adenomatosis
Islet cell tumor	EFO_0007331	A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).;A pancreatic cancer that is located_in the pancreatic islet cells.	Adenoma, Islet Cell;Islet cell neoplasm;Islet cell tumor;Islet cell tumour;PNEN;endocrine pancreas cancer;endocrine pancreas neoplasm;endocrine pancreas neoplasm (disease);endocrine pancreas tumor;islet cell tumor;islet cell tumour;malignant pancreatic Endocrine tumor;malignant tumor of endocrine pancreas;malignant tumor of endocrine pancreas (disorder);neoplasm of endocrine pancreas;pancreatic Endocrine neoplasm;pancreatic NEN;pancreatic endocrine neoplasm;pancreatic neuroendocrine neoplasm;tumor of endocrine pancreas
Isolated anencephaly/exencephaly	Orphanet_1048	Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.	N/A
Isolated biliary atresia	Orphanet_30391	Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.	Isolated atresia of bile ducts;Non-syndromic biliary atresia
Isolated dystonia	Orphanet_156159	N/A	Pure dystonia
Isolated polycystic liver disease	Orphanet_2924	Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).	ADPCLD;Autosomal dominant polycystic liver disease;PCLD
Japanese encephalitis	EFO_0007332	A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.;a disease due to a virus transmitted by an arthropod).	Encephalitis, Japanese;Japanese B encephalitis;Japanese encephalitis
Jaw cancer	EFO_0007333	A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone.;A malignant neoplasm involving the jaw skeleton	Jaw Neoplasms;cancer of jaw skeleton;jaw cancer;jaw skeleton cancer;malignant jaw skeleton neoplasm;malignant neoplasm of jaw skeleton;neoplasm of jaw (disorder)
Jaw disease	EFO_0009468	A disease affecting the jaw region, i.e. the part of the head that corresponds to the jaw skeleton, containing soft tissue, skeleton and teeth.	N/A
Joint disease	EFO_1000999	Any disorder of the joints;Any disorder of the joints.	Joint ankylosis of the ankle and/or foot;Joint disorder;ankylosis of joint of ankle and/or foot;ankylosis of joint of forearm;ankylosis of joint of hand;ankylosis of joint of lower leg;ankylosis of joint of upper arm;arthropathy;disease of skeletal joint;disease or disorder of skeletal joint;disorder of skeletal joint;disorder, Joint;disorder, joint;joint disorder;skeletal joint disease;skeletal joint disease or disorder
Joint hypermobility measurement	EFO_0007905	quantification of the severity of joint hypermobility, for example using the Beighton score, a score ranging from 0 to 9 based on 9 different measurements regarding the hypermobility of finger, knee, elbow, thumb and hip hypermobility	N/A
Juvenile idiopathic arthritis	EFO_0002609	Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).;Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis (JRA), is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. It is a subset of arthritis seen in childhood, which may be transient and self-limited or chronic. It differs significantly from arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), and other types of arthritis that can present in childhood which are chronic conditions (e.g. psoriatic arthritis and ankylosing spondylitis). Aetiopathology is similar to rheumatoid arthritis but with less marked cartilage erosion, and joint instability and absent rheumatoid factor. JIA affects approximately 1 in 1,000 children in any given year, with about 1 in 10,000 having a more severe form.	Arthritis (juvenile idiopathic);JIA;Juvenile Rheumatoid Arthritis;Juvenile chronic arthritis (disorder);Juvenile idiopathic arthritis;Juvenile idiopathic arthritis (disorder);Juvenile rheumatoid a.;Juvenile rheumatoid arthritis (disorder);Juvenile rheumatoid arthritis NOS (disorder);Juvenile rheumatoid arthritis, NOS;Juvenile seropositive polyarthritis;arthritis, juvenile rheumatoid;breast myoepithelial carcinoma;chronic childhood arthritis;juvenile arthritis;juvenile idiopathic arthritis;juvenile rheumatoid arthritis
Kaposi's sarcoma	EFO_0000558	A Human herpesvirus 8 infectious disease and is_a sarcoma that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8).;A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).;A sarcoma and Human herpesvirus 8 infectious disease that is transmitted_by human herpesvirus 8 (HHV8).;A sarcoma and is_a Human herpesvirus 8 infectious disease that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8).;A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV).	Epidemic Kaposi's sarcoma;KAPOSI'S SARCOMA NOS;KS;KS - Kaposi's sarcoma;Kaposi - Kaposi's Sarcoma;Kaposi Sarcoma;Kaposi sarcoma;Kaposi sarcoma, morphology;Kaposi's Sarcoma;Kaposi's sarcoma;Kaposi's sarcoma (clinical);Kaposi's sarcoma (disease);Kaposi's sarcoma (disorder);Kaposi's sarcoma (morphologic abnormality);Kaposi's sarcoma of conjunctiva;Kaposi's sarcoma of cornea;Kaposi's sarcoma of lung;Kaposi's sarcoma of palate;Kaposi's sarcoma of soft tissue;Kaposi's sarcoma of soft tissues;Kaposi's sarcoma, morphology;Kaposi's sarcoma, morphology (morphologic abnormality);Kaposi's sarcoma, other specified sites;Kaposi's sarcoma, unspecified;Kaposi's sarcoma-associated herpesvirus (KSHV);Multiple Hemorrhagic Sarcoma;Multiple haemorrhagic sarcoma;SPF STS - KPSI'S SARCOMA;[M]Kaposi's sarcoma;[X]Kaposi's sarcoma, unspecified;[X]Kaposi's sarcoma, unspecified (disorder)
Keloid	EFO_0004212	A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues.;An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.	keloid;keloids
Keratinization disease	MONDO_0045011	N/A	disorder of keratinization;keratinization disease
Keratitis	EFO_0009449	Inflammation of the cornea.;Inflammation of the cornea. [ NCIT:P378 ]	cornea inflammation;corneaitis;inflammation of cornea;keratitis
Keratoconus	Orphanet_156071	N/A	N/A
Keratosis	EFO_1000720	A skin disease characterized_by growth of keratin on the skin or mucous membranes.;A skin disorder consisting of hypertrophy of the stratum corneum of the skin.	keratoderma;keratosis
Kidney cancer	MONDO_0002367	Primary or metastatic malignant neoplasm involving the kidney.	cancer of kidney;kidney cancer;malignant kidney neoplasm;malignant kidney tumor;malignant neoplasm of kidney;malignant neoplasm of kidney except pelvis;malignant neoplasm of the kidney;malignant renal neoplasm;malignant renal tumor;malignant tumor of kidney;malignant tumor of the kidney;malignant tumour of kidney;renal cancer
Kidney disease	EFO_0003086	A disease affecting the kidneys;A disease involving the kidney.	Kidney Disorder;disease of kidney;disease or disorder of kidney;disorder of kidney;kidney disease;kidney disease or disorder;kidney diseases;kidney disorder;nephropathy;renal disease;renal disorder;renal system disease
Kidney failure	EFO_1002048	An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.;An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. [ NCIT:P378 ]	failure, renal;kidney failure;renal failure;renal failure syndrome;renal insufficiency
Kidney injury	EFO_0009833	Trauma to the kidney.	injury to kidney
Kidney neoplasm	EFO_0003865	A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.;Tumors or cancers of the KIDNEY.	Cancer of Kidney;Cancer of the Kidney;Cancer, Kidney;Cancer, Renal;Cancers, Kidney;Cancers, Renal;KIDNEY NEOPL;Kidney Cancer;Kidney Cancers;Kidney Neoplasms;NEOPL KIDNEY;Neoplasm, Kidney;Neoplasm, Renal;Neoplasms, Kidney;Neoplasms, Renal;RENAL NEOPL;Renal Cancer;Renal Cancers;Renal Neoplasm;Renal Neoplasms;kidney neoplasm;kidney neoplasm (disease);kidney tumor;neoplasm of kidney;neoplasm of the kidney;renal neoplasm;renal tumor;renal tumors;tumor of kidney;tumor of the kidney
Kidney oncocytoma	EFO_1000315	A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.	N/A
Kidney sarcoma	MONDO_0002930	A sarcoma involving a kidney.	kidney sarcoma;renal sarcoma;sarcoma of kidney;sarcoma of the kidney
Kinetic eyelid anomaly	Orphanet_98577	N/A	N/A
Klatskin's tumor	EFO_1001005	Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing.	Klatskin tumor;Klatskin's Tumor;Klatskin's tumor (disorder);Klatskin's tumor (morphologic abnormality);Perihilar extrahepatic bile duct carcinoma;hilar cholangiocarcinoma
Klinefelter's syndrome	EFO_1001006	A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).;A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.	47,XXY syndrome;Hypogonadotropic Hypogonadism;Klinefelter Syndrome;Klinefelter syndrome;Klinefelter's syndrome;Klinefelter's syndrome, XXY;XXY syndrome;XXY syndrome (Klinefelter syndrome);XXY trisomy
Krabbe disease	Orphanet_487	Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.	GALC deficiency;Galactocerebrosidase deficiency;Galactosylceramidase deficiency;Globoid cell leukodystrophy;Krabbe disease;Krabbe's disease;Krabbe's leukodystrophy;beta galactocerebrosidase deficiency;diffuse globoid body sclerosis;galactocerebrosidase deficiency;galactosylceramidase deficiency;galactosylceramide lipidosis;globoid cell leukodystrophy;globoid cell leukoencephalopathy
Labyrinthitis	EFO_0009604	Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.;Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. [ https://en.wikipedia.org/wiki/Labyrinthitis NCIT:C128369 ]	inflammation of internal ear;inner ear infection;internal ear inflammation;labyrinthitis
Lacrimal apparatus disease	EFO_0009455	A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.;A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. [ NCIT:C26809 ]	disease of lacrimal apparatus;disease or disorder of lacrimal apparatus;disorder of lacrimal apparatus;disorder of lacrimal system;lacrimal apparatus disease;lacrimal apparatus disease or disorder;lacrimal apparatus disorder;lacrimal system disease;lacrimal system disorder
Lacrimal gland adenocarcinoma	MONDO_0002475	A carcinoma that arises from glandular epithelial cells of the lacrimal gland	adenocarcinoma of lacrimal gland;adenocarcinoma of the lacrimal gland;lacrimal gland adenocarcinoma
Lacrimal gland adenoid cystic carcinoma	EFO_1000317	A adenoid cystic carcinoma that involves the lacrimal gland.;https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4540&ns=NCI_Thesaurus	adenoid cystic carcinoma of lacrimal gland;adenoid cystic carcinoma of the lacrimal gland;adenoid cystic carcinomal of the lacrimal gland;lacrimal gland adenoid cystic carcinoma
Lacrimal gland cancer	MONDO_0002464	A malignant neoplasm involving the lacrimal gland.	cancer of lacrimal gland;lacrimal gland cancer;malignant lacrimal gland neoplasm;malignant lacrimal gland tumor;malignant neoplasm of lacrimal gland;malignant neoplasm of the lacrimal gland;malignant tumor of lacrimal gland;malignant tumor of the lacrimal gland;malignant tumour of lacrimal gland;neoplasm of lacrimal gland;tumor of the lacrimal gland
Lacrimal gland carcinoma	MONDO_0002463	A carcinoma that arises from epithelial cells of the lacrimal gland.	carcinoma of lacrimal gland;carcinoma of the lacrimal gland;lacrimal gland carcinoma
Lacrimal gland neoplasm	MONDO_0021222	A neoplasm (disease) that involves the lacrimal gland.	lacrimal gland neoplasm (disease);lacrimal gland tumor;neoplasm of lacrimal gland;neoplasm of the lacrimal gland;tumor of lacrimal gland;tumor of the lacrimal gland
Lacrimal system cancer	MONDO_0002460	A cancer that involves the lacrimal apparatus.	cancer of lacrimal apparatus;lacrimal apparatus cancer;lacrimal system neoplasm;lacrimal system neoplasms;lacrimal system tumor;malignant lacrimal apparatus neoplasm;malignant neoplasm of lacrimal apparatus;neoplasm of lacrimal system;neoplasm of the lacrimal system;tumor of lacrimal system;tumor of the lacrimal system
Lacunar stroke	HP_0032325	N/A	N/A
Lafora disease	Orphanet_501	Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.	EPM2;PME type 2;Progressive myoclonic epilepsy type 2;Progressive myoclonus epilepsy type 2
Large cell carcinoma	MONDO_0005232	A malignant epithelial neoplasm composed of large, atypical cells.	carcinoma, large cell;large cell carcinoma
Large intestine disease	MONDO_0024634	A disease that involves the large intestine.	disease of large intestine;disease or disorder of large intestine;disorder of large intestine;large intestine disease or disorder
Laryngeal adenoid cystic carcinoma	EFO_1000319	A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.	adenoid cystic carcinoma of larynx;adenoid cystic carcinoma of the larynx;laryngeal adenoid cystic carcinoma;laryngeal throat adenoid cystic cancer
Laryngeal carcinoma	HP_0012118	A carcinoma of the larynx.	Cancer of the larynx;Laryngeal cancer
Laryngeal carcinoma	MONDO_0002358	Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.	cancer of larynx;cancer of the larynx;carcinoma of larynx;carcinoma of the larynx;laryngeal cancer;laryngeal carcinoma;laryngeal throat cancer;larynx carcinoma
Laryngeal disease	EFO_0009673	A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.;A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. [database_cross_reference: NCIT:P378]	disease of larynx;disease or disorder of larynx;disorder of larynx;disorder of the larynx;laryngeal disease;laryngeal disorder;larynx disease;larynx disease or disorder
Laryngeal neoplasm	EFO_0003817	A benign or malignant neoplasm involving the larynx.;Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.	Cancer of Larynx;Cancer of the Larynx;Cancer, Laryngeal;Cancer, Larynx;Cancers, Laryngeal;Cancers, Larynx;LARYNGEAL NEOPL;LARYNX NEOPL;Laryngeal Cancer;Laryngeal Cancers;Laryngeal Neoplasms;Larynx Cancer;Larynx Cancers;Larynx Neoplasm;Larynx Neoplasms;NEOPL LARYNGEAL;Neoplasm, Laryngeal;Neoplasm, Larynx;Neoplasms, Laryngeal;Neoplasms, Larynx;laryngeal neoplasm;laryngeal tumor;larynx neoplasm;larynx neoplasm (disease);larynx tumor;neoplasm of larynx;neoplasm of the larynx;tumor of larynx;tumor of the larynx
Laryngeal squamous cell carcinoma	EFO_0006352	A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.	Epidermoid Carcinoma of Larynx;Epidermoid Carcinoma of the Larynx;Laryngeal Epidermoid Carcinoma;Larynx Epidermoid Carcinoma;Larynx Squamous Cell Carcinoma;Squamous Cell Carcinoma of Larynx;Squamous Cell Carcinoma of the Larynx;epidermoid carcinoma of larynx;epidermoid carcinoma of the larynx;laryngeal epidermoid carcinoma;laryngeal squamous cell carcinoma;laryngeal throat squamous cell cancer;larynx epidermoid carcinoma;larynx squamous cell carcinoma;squamous cell carcinoma of larynx;squamous cell carcinoma of the larynx
Larynx cancer	MONDO_0002352	A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.	cancer of larynx;larynx cancer;malignant laryngeal neoplasm;malignant laryngeal tumor;malignant larynx neoplasm;malignant larynx tumor;malignant neoplasm of larynx;malignant neoplasm of the larynx;malignant tumor of larynx;malignant tumor of the larynx
Late-onset alzheimers disease	EFO_1001870	This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers haven’t found a particular gene that causes it. No one knows for sure why some people get it and others don’t.	Alzheimer Senile Dementia;Alzheimer Type Senile Dementia;Senile Dementia, Alzheimer Type;late-onset Alzheimer's
Late-onset ataxia with dementia	Orphanet_98540	N/A	N/A
Late-onset myasthenia gravis	EFO_1001490	Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma (see this term).;late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older	adult-onset acquired myasthenia;adult-onset autoimmune myasthenia gravis;adult-onset myasthenia gravis
Ldl cholesterol change measurement	EFO_0007804	quantification of the change in LDL cholesterol levels in an individual over time, eg over the course of several hours after a high-fat meal or following treatment with a cholesterol-lowering drug	N/A
Lean body mass	EFO_0004995	The weight of all organs and tissue in an individual less the weight of the individual's body fat.	N/A
Left ventricular diastolic function measurement	EFO_0008204	quantification of some aspect of the diastolic function of the left cardiac ventricle such as peak velocity of mitral waves, isovolumetric relaxation time or diastolic dysfunction with preserved ejection fraction	N/A
Left ventricular hypertrophy	EFO_0003896	Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.	Hypertrophies, Left Ventricular;Hypertrophy, Left Ventricular;Left Ventricular Hypertrophies;Ventricular Hypertrophies, Left;Ventricular Hypertrophy, Left
Left ventricular structural measurement	EFO_0008205	quantification of some aspect of the structure of the left cardiac ventricle such as wall thickness, mass or atrial atero-posterior diameter	N/A
Left ventricular systolic function measurement	EFO_0008206	quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction	N/A
Legg-calv��-perthes disease	Orphanet_2380	Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.	Aseptic necrosis of the capital femoral epiphysis;Osteochondritis of the capital femoral epiphysis;Osteochondrosis of the capital femoral epiphysis;Perthes disease
Leg injury	EFO_0009508	Injury to a leg.	N/A
Leiomyoma	DOID_127	A cell type benign neoplasm that is a benign tumor of smooth muscle cells.	leiomyomatous neoplasm;leiomyomatous tumor
Leiomyoma	MONDO_0001572	A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	fibroid;fibroid neoplasm;fibroid tumor;leiomyoma;leiomyoma, benign;leiomyomatous neoplasm;leiomyomatous neoplasm (morphologic abnormality);leiomyomatous tumor
Leiomyomatosis	MONDO_0003295	A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.	leiomyomatosis;leiomyomatosis, no ICD-O subtype;leiomyomatosis, no ICD-O subtype (morphologic abnormality)
Leiomyosarcoma	EFO_0000564	A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.;A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865);An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women.  It is characterized by a proliferation of neoplastic spindle cells.  Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.;An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.	Leiomyosarcomas;leiomyosarcoma;leiomyosarcoma (excluding uterine leiomyosarcoma);leiomyosarcoma - not uterine;leiomyosarcoma, malignant
Leishmaniasis	EFO_0005044	Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).;Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae).	leishmaniasis
Lemierre's syndrome	DOID_11337	A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.	Lemierre syndrome;human necrobacillosis;postanginal sepsis
Lens disease	EFO_0009674	A disease involving the lens of camera-type eye.;A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]	disease of lens of camera-type eye;disease or disorder of lens of camera-type eye;disorder of lens of camera-type eye;lens disease;lens disorder;lens of camera-type eye disease;lens of camera-type eye disease or disorder
Lens position anomaly	Orphanet_98653	Partial or complete displacement of the crystalline lens from its normal position in the eye.	ectopia lentis;lens position anomaly
Lens shape anomaly	Orphanet_98655	N/A	N/A
Lentiform nucleus measurement	EFO_0004913	Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinson’s disease, schizophrenia, and ADH.	lenticular nucleus measurement;lentiform nucleus volume
Lentivirus infections	EFO_1001357	Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.	lentivirus infection
Lepromatous leprosy	EFO_0001057	A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.;A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.	Cutaneous Leprosies;Cutaneous Leprosy;Full lepromatous leprosy;LL - Full lepromatous leprosy;Lepromatous Leprosies;Lepromatous leprosy (disorder);Lepromatous leprosy [type L];Leprosies, Cutaneous;Leprosies, Lepromatous;Leprosies, Nodular;Leprosy, Cutaneous;Leprosy, Lepromatous;Leprosy, Nodular;Nodular Leprosies;Nodular Leprosy;Type L leprosy;Type LL leprosy;lepromatous leprosy;lepromatous leprosy [type L];type L leprosy
Leprosy	EFO_0001054	A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid.;Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.	Disease, Hansen;Disease, Hansen's;HANSEN DIS;HANSENS DIS;Hansen Disease;Hansen disease;Hansen's Disease;Hansen's disease;Hansens Disease;Infection due to Mycobacterium leprae;LEPROSY NEC;LEPROSY NOS;Leprosies;Leprosy (disorder);Leprosy NOS (disorder);Leprosy, NOS;Leprosy, unspecified;Mycobacterium leprae caused disease or disorder;Mycobacterium leprae disease or disorder;Mycobacterium leprae infection;Mycobacterium leprae infectious disease;Other specified leprosy;[X]Leprosy, unspecified;[X]Leprosy, unspecified (disorder);leprosy
Leptin measurement	EFO_0005000	Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. 	N/A
Lesch-nyhan syndrome	Orphanet_510	Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.	HPRT complete deficiency;HPRT deficiency grade IV;Hypoxanthine guanine phosphoribosyltransferase complete deficiency;Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Leukemia	EFO_0000565	A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.;A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.  Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present.  Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly.  Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia.  Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.;A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.;A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)	Blood (Leukemia);Leukaemia;Leukaemia, NOS;Leukaemia, disease;Leukemia NOS (disorder);Leukemia, disease;Leukemia, morphology (morphologic abnormality);Leukemias;Leukemias, General;blood (leukemia);chronic leukemia;chronic leukemia, disease (disorder);leukemia;leukemia (disease);leukemia, disease;leukemia, malignant;leukemias;leukemias, general
Leukocyte count	EFO_0004308	The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.	WBC;white blood cell count;white cell count
Leukocyte disease	MONDO_0004805	A disease involving leukocytes.	disease of leukocyte;disease or disorder of leukocyte;disorder of leukocyte;disorder, leukocyte;disorders, leukocyte;leukocyte disease;leukocyte disease or disorder;leukocyte disorder;white blood cell disorder
Leukodystrophy	Orphanet_68356	N/A	N/A
Lewy body dementia	EFO_0006792	A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.	Lewy body disease
Lichen disease	EFO_1000724	a long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.	lichen;lichen disease;lichen sclerosus
Lichen planus	EFO_1000726	A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.;A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known.	Lichen, ruber planus;lichen planus;lichen ruber planus;lichen, ruber planus
Li-fraumeni syndrome	Orphanet_524	Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).	N/A
Limb disorder	MONDO_0044967	A disease or disorder that involves the limb.	disease of limb;disease or disorder of limb;disorder of extremity;disorder of limb;limb disease;limb disease or disorder
Limb dystonia	Orphanet_93957	N/A	N/A
Limb-girdle muscular dystrophy	Orphanet_263	Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.;Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.	LGMD;Leyden-Mbius muscular dystrophy;Leyden-Mobius muscular dystrophy;erb's muscular dystrophy;limb girdle muscular dystrophy;limb-girdle muscular dystrophy
Limb injury	EFO_0009509	Injury to a limb.	N/A
Linoleic acid measurement	EFO_0006807	The determination of the amount of linoleic acid present in a sample.	N/A
Lip and oral cavity carcinoma	MONDO_0023644	A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.	lip and oral cavity cancer;lip and oral cavity carcinoma;oral cancer;oral carcinoma
Lip and oral cavity squamous cell carcinoma	MONDO_0044710	A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.	lip and oral cavity squamous cell cancer;lip and oral cavity squamous cell carcinoma;lip/oral cavity squam. cell car.
Lipid measurement	EFO_0004529	A measure of circulating lipid	N/A
Lipid storage disease	Orphanet_79204	N/A	N/A
Lip morphology measurement	EFO_0007845	quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature	N/A
Lipoma	EFO_0000759	A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.	LIPOMA NEC;LIPOMA NOS;LIPOMA SKIN NEC;LIPOMATOSIS, FAMILIAL MULTIPLE;Lipoma (clinical);Lipoma (disorder);Lipoma NOS (disorder);Lipoma of other skin and subcutaneous tissue;Lipoma of other specified sites;Lipoma of other specified sites (disorder);Lipoma of unspecified body site;Lipoma, NOS;Lipoma, no ICD-O subtype;Lipoma, no ICD-O subtype (morphologic abnormality);Lipoma, unspecified site;[M]Lipoma NOS;[M]Lipoma NOS (morphologic abnormality);benign lipomatous tumor;benign tumor of adipose tissue;lipoma;lipoma, benign;lipomatosis, familial multiple;lipomatous neoplasm;lipomatous neoplasm (morphologic abnormality);lipomatous tumor;multiple lipomatosis;tumor of adipose tissue
Lipomatosis	EFO_1000728	A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.;an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders.	Launois-Bensaude syndrome;Madelung disease;Madelung's disease;lipomatosis
Lipomatous cancer	MONDO_0002813	A malignant mesenchymal neoplasm arising from adipocytes.	adipose tissue cancer;cancer of adipose tissue;malignant adipose tissue neoplasm;malignant adipose tissue tumor;malignant lipomatous neoplasm;malignant lipomatous tumor;malignant neoplasm of adipose tissue;malignant neoplasm of the adipose tissue;malignant tumor of adipose tissue;malignant tumor of the adipose tissue
Lipoprotein a measurement	EFO_0006925	quantification of some lipoprotein A in a sample	Lp(a) measurement
Lipoprotein-associated phospholipase a(2) measurement	EFO_0004746	Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker.	Lipoprotein-associated phospholipase A(2) level;Lipoprotein-associated phospholipase A(2) levels
Lipoprotein measurement	EFO_0004732	Is the quantification of some lipoprotein	N/A
Liposarcoma	EFO_0000569	A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.;A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed);A usually painless malignant tumor that arises from adipose tissue.  Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes.  Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma.  The metastatic potential is higher in less differentiated tumors.;A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.	Fibroliposarcoma;Liposarcoma (disorder);Liposarcoma (morphologic abnormality);Liposarcoma NOS (morphologic abnormality);Liposarcoma morphology;Liposarcoma, NOS;Liposarcoma, no ICD-O subtype;Liposarcoma, no ICD-O subtype (morphologic abnormality);Liposarcomas;[M]Liposarcoma NOS;[M]Liposarcoma NOS (morphologic abnormality);lip sarcoma;liposarcoma;liposarcoma, malignant;sarcoma of lip
Listeria meningitis	EFO_1001021	Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36);Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)	Listeria meningitis;Listeria monocytogenes caused infectious meningitis;Listeria monocytogenes infectious meningitis;Meningitis, Listeria
Listeriosis	EFO_0007347	A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.;A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.	Infection by Listeria monocytogenes;Infection due to Listeria monocytogenes (disorder);Listeria infection;Listeria monocytogenes caused disease or disorder;Listeria monocytogenes disease or disorder;Listeria monocytogenes infectious disease;Listeriosis;Listeriosis (disorder);Listeriosis NOS (disorder);Listeriosis, unspecified (disorder);infection by Listeria monocytogenes;listeriosis
Liver and intrahepatic bile duct neoplasm	MONDO_0024477	A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.	hepatic and intrahepatic bile duct neoplasm;liver and intrahepatic bile duct neoplasm
Liver cancer	MONDO_0002691	An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.	Ca liver - primary;Resectable malignant neoplasm of liver;ca liver - primary;cancer of liver;hepatic cancer;hepatic neoplasm;liver cancer;malignant hepato-biliary neoplasm;malignant liver neoplasm;malignant neoplasm of liver;malignant neoplasm of liver, not specified as primary or secondary;malignant neoplasm of liver, primary;malignant tumor of liver;neoplasm of liver;non-resectable primary hepatic malignant neoplasm;primary liver cancer;primary malignant liver neoplasm;primary malignant neoplasm of liver;resectable malignant neoplasm of the liver
Liver disease	EFO_0001421	A disease involving the liver.;Any disease or dysfunction of the liver and the intrahepatic bile ducts.;Pathological processes of the LIVER.	Disease of liver;Disease, Liver;Diseases, Liver;Disorder of liver;Dysfunction, Liver;Dysfunctions, Liver;Hepatopathy;LD - Liver disease;LIVER DIS;Liver Diseases;Liver Disorder;Liver Dysfunction;Liver Dysfunctions;Liver and Intrahepatic Bile Duct Disorder;Liver disorder NOS;Liver disorder NOS (disorder);Liver disorder in pregnancy;Liver disorder in pregnancy (disorder);Liver disorder in pregnancy - delivered (disorder);Liver disorder in pregnancy NOS (disorder);Liver disorder in pregnancy unspecified (disorder);Liver disorder in pregnancy, unspecified as to episode of care;Liver disorder in pregnancy, with delivery;Unspecified disorder of liver;[X]Diseases of the liver;[X]Diseases of the liver (disorder);disease of liver;disease of liver [Ambiguous];disease of the liver (disorder);disease or disorder of liver;disorder of liver;disorder of liver (disorder);hepatic disease;hepatic disorder;liver and intrahepatic bile duct disorder;liver disease;liver disease or disorder;liver disorder;liver disorder antepartum;liver disorder in pregnancy - delivered
Liver neoplasm	EFO_1001513	A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma.;Tumors or cancers of the LIVER.	Cancer of liver;Cancer of the liver;Cancer, hepatic;Cancer, liver;Cancers, hepatic;Cancers, liver;Hepatic Cancer;Hepatic Cancers;Hepatic Neoplasms;LIVER NEOPL;NEOPL LIVER;Neoplasm, hepatic;Neoplasm, liver;epithelial hepatic and intrahepatic bile duct neoplasm;liver Cancer;liver Cancers;liver and intrahepatic bile duct epithelial neoplasm;liver neoplasm;liver neoplasm (disease);liver tumor;neoplasm of liver;tumor of liver
Localised scleroderma	EFO_1001361	A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules.;Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.	Scleroderma, Localized;Scleroderma, circumscribed or localized;circumscribed scleroderma;localised morphoea;localized fibrosing scleroderma;localized morphea;localized scleroderma;localized scleroderma (disorder) [ambiguous];morphea;scleroderma, localised
Loeys-dietz syndrome	Orphanet_60030	Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.	Aortic aneurysm syndrome due to TGF-beta receptors anomalies;Loeys-Dietz syndrome;aortic aneurysm syndrome due to TGF-beta receptors anomalies
Loneliness measurement	EFO_0007865	Quantification of some aspect of loneliness, such as severity or presence/absence, generally through administration of a standardised questionnaire such as the 3-Item Leave Behind Questionnaire (LBQ).	N/A
Longevity	EFO_0004300	The  length of time of an organism's life.	length of life
Longitudinal bmi measurement	EFO_0005937	quantification of the variation in body mass index over time	body mass index change measurement
Low density lipoprotein cholesterol measurement	EFO_0004611	The measurement of LDL cholesterol in blood used as a risk indicator for heart disease.	LDL measurement
Lower body strength measurement	EFO_0007999	quantification of the force that can be exerted by the lower body	N/A
Lower respiratory tract disease	EFO_0009433	A disease involving the lower respiratory tract.;A disease that affects the lower respiratory tract.	disease of lower respiratory tract;disease or disorder of lower respiratory tract;disorder of lower respiratory system;disorder of lower respiratory tract;lower respiratory tract disease;lower respiratory tract disease or disorder;lower respiratory tract disorder
Low grade astrocytic tumor	MONDO_0021638	A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).	low grade astrocytic neoplasm;low grade astrocytic tumor;low-grade astrocytic neoplasm;low-grade astrocytic tumor
Low grade glioma	MONDO_0021637	A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.	low grade glioma;low-grade glioma
Low molecular weight phosphotyrosine protein phosphatase measurement	EFO_0008213	quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample	N/A
Lumbar disc degeneration	EFO_0004994	Any disease of a degenerative nature that affects the intervertebral disc.;lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine.	degenerative disc disease;degenerative disc disorder;degenerative disorder of intervertebral disk;intervertebral Disc Degeneration;intervertebral Disc degenerative disease;intervertebral Disc degenerative disorder;intervertebral disc degeneration;intervertebral disc degenerative disorder;intervertebral disc disease;intervertebral disc disease; IDD;intervertebral disk degenerative disorder;vertebral Disc degenerative disease;vertebral Disc degenerative disorder;vertebral disc disease
Lung adenocarcinoma	EFO_0000571	A carcinoma characterized by the presence of malignant glandular epithelial cells.  There is a male predilection with a male to female ratio of 2:1.  Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding.  If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever.  Tobacco smoke is a known risk factor.;A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.	Adenocarcinoma of Lung;Adenocarcinoma of the Lung;adenocarcinoma of lung;adenocarcinoma of lung (disorder);adenocarcinoma of the lung;bronchogenic lung adenocarcinoma;lung adenocarcinoma;non-small cell lung adenocarcinoma;nonsmall cell adenocarcinoma
Lung cancer	MONDO_0008903	A malignant neoplasm involving the lung.	cancer of lung;lung cancer;malignant lung neoplasm;malignant lung tumor;malignant neoplasm of lung;malignant neoplasm of the lung;malignant tumor of lung;malignant tumor of the lung
Lung carcinoma	EFO_0001071	A carcinoma originating in the lung.  Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas.  Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas.  Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.;A carcinoma that arises from epithelial cells of the lung;A carcinoma that is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.	Carcinoma of the Lung;carcinoma OF LUNG;carcinoma of lung;carcinoma of the lung;lung carcinoma
Lung disease	EFO_0003818	A disease involving the lung.;Pathological processes involving any part of the LUNG.	DIS PULM;Disease, Lung;Disease, Pulmonary;Diseases, Lung;Diseases, Pulmonary;LUNG DIS;Lung Diseases;PULM DIS;Pulmonary Disease;Pulmonary Diseases;disease of lung;disease or disorder of lung;disorder of lung;lung disease;lung disease or disorder;lung disorders;pulmonary diseases;pulmonary disorder;pulmonary disorders
Lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome	Orphanet_137631	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.	N/A
Lung neoplasm	MONDO_0021117	A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.	lung neoplasm;lung neoplasm (disease);lung neoplasms;lung tumor;neoplasm of lung;neoplasm of the lung;tumor of lung;tumor of the lung
Lupus erythematosus	MONDO_0004670	An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.	lupus;lupus erythematosus
Lupus nephritis	EFO_0005761	Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982).;Glomerulonephritis in the context of systemic lupus erythematosus.	SLE nephritis;lupus glomerulonephritis;lupus nephritis
Lupus vulgaris	EFO_1001023	A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa.;A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.	Lupus - tuberculous;Lupus Vulgaris;Lupus exedens;Lupus vulgaris;Lupus vulgaris (disorder);Tuberculosis - lupus NOS (disorder);lupus tuberculosis;lupus vulgaris
Lyme disease	EFO_0008510	Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.;Lyme disease is an infectious disease caused by the bacteria Borrelia burgdorferi. The first symptom is usually a red rash, which may look like a bull's eye.	Bannwarth syndrome;Bannworth's syndrome;Borrelia;Borrelia burgdorferi infection;Borreliella burgdorferi caused disease or disorder;Borreliella burgdorferi disease or disorder;Borreliella burgdorferi infectious disease;Lyme borreliosis;Lyme disease;Lyme neuroborreliosis;Steere's disease;neuroborreliosis;neurological Lyme disease
Lymphadenitis (disease)	MONDO_0002052	Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.	Inflammation of lymph node;acute adenitis;acute lymphadenitis;adenitis;chronic adenitis;chronic lymphadenitis;inflammation of lymph node;lymph node inflammation;lymph nodeitis;lymphadenitis
Lymphatic system cancer	MONDO_0000612	A malignant neoplasm involving the lymphatic part of lymphoid system	cancer of lymphatic part of lymphoid system;lymphatic part of lymphoid system cancer;malignant lymphatic part of lymphoid system neoplasm;malignant neoplasm of lymphatic part of lymphoid system
Lymphatic system disease	EFO_0007352	A disease involving the lymphatic part of lymphoid system.;a disease in lymphatic system	disease of lymphatic part of lymphoid system;disease or disorder of lymphatic part of lymphoid system;disorder of lymph node and lymphatics;disorder of lymphatic part of lymphoid system;disorder of lymphatic system;glands, swollen;lymphatic disease;lymphatic disorder;lymphatic part of lymphoid system disease;lymphatic part of lymphoid system disease or disorder;lymphatic system disease;swollen gland;swollen glands
Lymphedema	Orphanet_79383	N/A	N/A
Lymph node cancer	MONDO_0001082	A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004	cancer of lymph node;lymph node cancer;lymph node neoplasm;malignant lymph node neoplasm;malignant neoplasm of lymph node
Lymph node disease	MONDO_0004928	Any disorder of the lymph nodes.	disease of lymph node;disease or disorder of lymph node;disorder of lymph node;lymph node disease;lymph node disease or disorder;lymph node disorder
Lymph node metastatic carcinoma	EFO_0004906	A type of carcinoma which has spread to lymph nodes from some other primary cancer site.;The spread of a malignant neoplasm to the lymph nodes.	Metastases to lymph nodes;Metastatic Malignant Neoplasm in the Lymph Nodes;lymph node metastasis;metastasis to lymph node;metastatic malignant neoplasm in the lymph nodes;metastatic malignant neoplasm to the lymph nodes;metastatic neoplasm to the lymph node;metastatic tumor to lymph node
Lymph node neoplasm	MONDO_0024339	A neoplasm involving a lymph node.	lymph node neoplasm;lymph node neoplasm (disease);lymph node tumor;neoplasm of lymph node;tumor of lymph node
Lymphoblast	EFO_0000572	An immature lymphocyte that has enlarged in response to antigenic stimulation.;Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes.	lymphoblastic
Lymphoblastic leukemia	MONDO_0001018	N/A	N/A
Lymphoblastic lymphoma	MONDO_0000873	A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.	lymphoblastic lymphoma;lymphoma, lymphoblastic, malignant;precursor cell lymphoblastic lymphoma;precursor lymphoblastic lymphoma
Lymphocyte count	EFO_0004587	A quantification of lymphocytes in blood.	lymphocyte counts
Lymphocyte percentage of leukocytes	EFO_0007993	A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. 	blood lymphocyte count to total leukocyte count ratio;lymphocyte count as percentage of total white blood cells;lymphocyte count to total WBC count ratio;lymphocyte percentage;lymphocyte percentage of white cells
Lymphocytic choriomeningitis	DOID_12155	A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting.	LCM;Lymphocytic choriomeningitis virus encephalomyelitis;Lymphocytic meningitis;Lymphocytic meningoencephalitis
Lymphoid hemopathy	MONDO_0015757	N/A	N/A
Lymphoid leukemia	EFO_0004289	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.;Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts.	Lymphoblastic Lymphoma;Lymphoblastic leukaemia;Lymphoma, Lymphoblastic;Lymphomas, Lymphoblastic;leukemia, LYMPHOCYTIC, malignant;leukemia, lymphoid;lymphocytic leukemia;lymphogenous leukemia;lymphoid leukemia;lymphoid leukemia (disease);subacute lymphoid leukemia
Lymphoid neoplasm	EFO_0001642	A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.;Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.	DIFFUSE LARGE LYMPHOMA;Diffuse Histiocytic Lymphoma;Diffuse Histiocytic Lymphomas;Diffuse Large Cell Lymphoma;Diffuse Large-Cell Lymphoma;Diffuse Large-Cell Lymphomas;Diffuse, Large B-Cell, Lymphoma;Histiocytic Lymphoma;Histiocytic Lymphoma, Diffuse;Histiocytic Lymphomas;Histiocytic Lymphomas, Diffuse;LARGE LYMPHOMA;LARGE LYMPHOMA DIFFUSE;LYMPHOMA DIFFUSE LARGE;LYMPHOMA LARGE;LYMPHOMA LARGE DIFFUSE;Large Cell Lymphoma;Large Cell Lymphoma, Diffuse;Large Lymphoid Lymphoma, Diffuse;Large-Cell Lymphoma;Large-Cell Lymphoma, Diffuse;Large-Cell Lymphomas;Large-Cell Lymphomas, Diffuse;Lymphocytic Neoplasm;Lymphoma, Diffuse Histiocytic;Lymphoma, Diffuse Large Cell;Lymphoma, Diffuse Large-Cell;Lymphoma, Histiocytic;Lymphoma, Histiocytic, Diffuse;Lymphoma, Large B-Cell, Diffuse;Lymphoma, Large Cell;Lymphoma, Large Cell, Diffuse;Lymphoma, Large Lymphoid, Diffuse;Lymphoma, Large-Cell;Lymphoma, Large-Cell, Diffuse;Lymphomas, Diffuse Histiocytic;Lymphomas, Diffuse Large-Cell;Lymphomas, Histiocytic;Lymphomas, Large-Cell;blood cancer;hematological cancer;hematological neoplasm;lymphocytic and plasma cell neoplasm;lymphocytic and plasma cell tumor;lymphocytic and plasma cell tumour;lymphocytic and plasmacytic neoplasm;lymphocytic neoplasm;lymphocytic tumor;lymphoid and plasma cell tumor;lymphoid and plasma cell tumour;lymphoid and plasmacytic neoplasm;lymphoid and plasmacytic tumor;lymphoid and plasmacytic tumour;lymphoid neoplasm;lymphoid tumor
Lymphoid system disease	MONDO_0044986	A disease or disorder that involves the lymphoid system.	disease of lymphoid system;disease or disorder of lymphoid system;disorder of lymphoid system;lymphoid system disease;lymphoid system disease or disorder
Lymphoma	EFO_0000574	A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.;A general term for various neoplastic diseases of the lymphoid tissue.;A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites.  This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.;A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.;Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.	Lymphoma (Non-Hodgkin);Lymphoma (clinical);Lymphoma, Malignant;Lymphoma, NOS;Lymphomas;Malignant Lymphoma;Malignant lymphoma NOS;lymphoid cancer;lymphoma;lymphoma (Hodgkin and Non-Hodgkin);lymphoma (Hodgkin and non-Hodgkin);lymphoma (Hodgkin's and non-Hodgkin's);lymphoma, malignant;lymphomatous;malignant lymphoma
Lymphopenia (disease)	MONDO_0003783	Reduction in the number of lymphocytes.	lymphocytopenia;lymphopenia
Lymphoproliferative disease associated with primary immune disease	Orphanet_98291	N/A	N/A
Lymphoproliferative syndrome	Orphanet_238510	N/A	N/A
Lynch syndrome	Orphanet_144	N/A	N/A
Lysosomal disease	Orphanet_68366	N/A	N/A
Lysosomal disease with epilepsy	MONDO_0016397	N/A	N/A
Lysosomal disease with hypertrophic cardiomyopathy	Orphanet_217581	N/A	N/A
Lysosomal disease with restrictive cardiomyopathy	Orphanet_217638	N/A	N/A
Lysosomal glycogen storage disease	Orphanet_309337	N/A	N/A
Lysosomal storage disease with skeletal involvement	Orphanet_93448	N/A	Dysostosis multiplex
Lysozyme c measurement	EFO_0008216	quantification of the amount of lysozyme C in a sample	N/A
Machado-joseph disease	DOID_1440	An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.	Azorean disease;MJD;spinocerebellar ataxia 3;spinocerebellar ataxia type 3
Macrocytic anemia (disease)	MONDO_0002281	Anemia that is characterized by increased red blood cell volume.	D22S676;D22S750;anemia macrocytic;macrocytic Anemia;macrocytic anaemia;macrocytic anaemia of unspecified cause;macrocytic anemia
Macroglobulinemia	EFO_0002616	Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life.	Lymphoplasmacytic Lymphoma;Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia;Macroglobulinemia (disorder);Macroglobulinemia NOS (disorder);Waldenstrm macroglobulinemia (disorder);Waldenstrom's macroglob'naemia;Waldenstrom's macroglobulinaemia;Waldenstrom's macroglobulinemia;Waldenstrom's macroglobulinemia (disorder);Waldenstrom's macroglobulinemia (morphologic abnormality);macroglobulinemia;primary macroglobulinemia
Macroglossia	Orphanet_156207	The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)	macroglossia
Macrophage inflammatory protein 1a measurement	EFO_0008218	quantification of the amount of macrophage inflammatory protein 1a in a sample	N/A
Macrophage inflammatory protein 1b measurement	EFO_0008219	quantification of the amount of macrophage inflammatory protein 1b in a sample	N/A
Macrophage migration inhibitory factor measurement	EFO_0008221	quantification of the amount of macrophage migration inhibitory factor in a sample	N/A
Macular degeneration	EFO_0009606	Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.;Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIT:P378 ]	macula lutea retinal degeneration;macula retinal degeneration;macular degeneration;macular degeneration of retina;retinal degeneration of macula lutea
Macular telangiectasia type 2	EFO_1002009	Macular telangiectasia type 2 is a rare neurovascular degenerative retinal disease. MacTel cases typically present at 40–60 years of age with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. MacTel is an uncommon disease with a 0.0045–0.1% population prevalence and no obvious sex bias. Retinal lesions typically co- present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellow–white parafoveal crystals, and retinal pigment epithelium (RPE) pigmen- tation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.06–1.18% of the general population.	MacTel;idiopathic juxtafoveal retinal telangiectasis type 2
Magnesium measurement	EFO_0004845	Is a quantification of magnesium in serum.	N/A
Major depressive episode	EFO_0007634	period of major depressive symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder	N/A
Major induction processes eye anomaly	Orphanet_98554	N/A	N/A
Major salivary gland cancer	MONDO_0044743	A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	cancer of major salivary gland;malignant Major salivary gland neoplasm;malignant Major salivary gland tumor;malignant major salivary gland neoplasm;malignant neoplasm of Major salivary gland;malignant neoplasm of major salivary gland;malignant neoplasm of the Major salivary gland;malignant tumor of Major salivary gland;malignant tumor of major salivary gland;malignant tumor of the Major salivary gland
Malabsorption syndrome	EFO_0009554	A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.	malabsorption;malabsorption syndrome
Malaria	EFO_0001068	A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.;A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.;An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.;Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.;Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.	Disease due to Plasmodiidae;Disease due to Plasmodiidae (disorder);Fever, Marsh;Fever, Remittent;INFECT PLASMODIUM;Induced malaria (disorder);Infection, Plasmodium;Infections, Plasmodium;MALARIA COMPLICATED NEC;MALARIA NEC;MALARIA NOS;Malaria (disorder);Malaria, NOS;Malaria, unspecified;Malarial fever;Malarial fever (finding);Marsh Fever;Other malaria;Other malaria (disorder);Other pernicious complications of malaria;PLASMODIUM INFECT;Paludism;Plasmodiosis;Plasmodium Infection;Plasmodium Infections;Remittent Fever;Unspecified malaria;Unspecified malaria (disorder);[X]Unspecified malaria;[X]Unspecified malaria (disorder);induced malaria;malaria
Male infertility due to gonadal dysgenesis	Orphanet_98313	N/A	Male infertility due to testicular dysgenesis
Male infertility due to gonadal dysgenesis or sperm disorder	Orphanet_399764	N/A	Male infertility due to testicular dysgenesis or sperm disorder;male infertility due to gonadal dysgenesis or sperm disorder
Male infertility due to obstructive azoospermia	MONDO_0020091	N/A	Male infertility due to impaired sperm transport
Male infertility due to obstructive azoospermia of genetic origin	Orphanet_399998	N/A	Male infertility due to impaired sperm transport of genetic origin;male infertility due to obstructive azoospermia of genetic origin
Male infertility due to sperm disorder	Orphanet_399771	N/A	N/A
Male infertility due to sperm motility disorder	Orphanet_399813	N/A	Male infertility due to asthenozoospermia;male infertility due to sperm motility disorder
Male infertility	EFO_0004248	The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.;The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.	infertility disorder of male reproductive system;infertility, male;male infertility;male reproductive system infertility;male reproductive system infertility disorder;male sterility;sterility, male
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Orphanet_399805	Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.	N/A
Male infertility with spermatogenesis disorder due to single gene mutation	Orphanet_399786	N/A	N/A
Male infertility with spermatogenesis disorder	Orphanet_399775	N/A	N/A
Male reproductive organ cancer	EFO_0007355	A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.;A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.	Genital Neoplasms, Male;cancer of male reproductive organ;male genital cancer;male reproductive organ cancer;male reproductive system neoplasm;malignant Male reproductive system neoplasm;malignant Male reproductive system tumor;malignant male reproductive organ neoplasm;malignant neoplasm of Male reproductive system;malignant neoplasm of male genital organ;malignant neoplasm of male genital organ or tract;malignant neoplasm of male genital organ, NOS;malignant neoplasm of male genital organ, site unspecified;malignant neoplasm of male genital organ, unspecified (disorder);malignant neoplasm of male genital organs;malignant neoplasm of male genital organs (disorder);malignant neoplasm of male reproductive organ;malignant neoplasm of the Male reproductive system;malignant tumor of Male reproductive system;malignant tumor of male Reproductive system;malignant tumor of male genital organ;malignant tumor of male genital organ (disorder);malignant tumor of male reproductive system;malignant tumor of the Male reproductive system;neoplasm of male genital organ;tumor of male Reproductive system
Male reproductive system disease	EFO_0009555	A disease involving the male reproductive system.	Male reproductive system disease;Male reproductive system disorder;disease of male reproductive system;disease or disorder of male reproductive system;disorder of Male reproductive system;disorder of male reproductive system;male reproductive disease;male reproductive system disease;male reproductive system disease or disorder
Male reproductive system neoplasm	MONDO_0024582	A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.	Male reproductive system neoplasm;Male reproductive system tumor;male reproductive organ neoplasm;male reproductive organ tumor;neoplasm of Male reproductive system;neoplasm of male reproductive organ;neoplasm of the Male reproductive system;tumor of Male reproductive system;tumor of male reproductive organ;tumor of the Male reproductive system
Malformation syndrome with hamartosis	Orphanet_98196	N/A	Dysmorphologic diseases with phakomatosis
Malformation syndrome with skin/mucosae involvement	Orphanet_139027	N/A	N/A
Malignant breast phyllodes tumor	EFO_0008545	A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.	breast phyllodes tumor, malignant;malignant breast phyllodes neoplasm;malignant breast phyllodes tumor;malignant cystosarcoma phyllodes of breast;malignant cystosarcoma phyllodes of the breast;malignant mammary phyllodes neoplasm;malignant mammary phyllodes tumor;malignant phyllodes breast neoplasm;malignant phyllodes neoplasm of breast;malignant phyllodes neoplasm of the breast;malignant phyllodes tumor;malignant phyllodes tumor (morphologic abnormality);malignant phyllodes tumor of breast;malignant phyllodes tumor of the breast;phyllodes breast neoplasm;phyllodes breast tumor;phyllodes tumor, malignant
Malignant colon neoplasm	MONDO_0021063	A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.	cancer of colon;colon cancer;colon neoplasm, malignant;colon tumor, malignant;malignant colon neoplasm;malignant colon tumor;malignant colonic neoplasm;malignant colonic tumor;malignant neoplasm of colon;malignant neoplasm of the colon;malignant tumor of colon;malignant tumor of the colon
Malignant endocrine neoplasm	MONDO_0021069	A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.	Endocrine tumor;cancer of endocrine gland;endocrine cancer;endocrine gland cancer;endocrine neoplasm;endocrine neoplasm, malignant;malignant endocrine gland neoplasm;malignant endocrine gland tumor;malignant endocrine neoplasm;malignant endocrine tumor;malignant neoplasm of endocrine gland;malignant neoplasm of the endocrine gland;malignant tumor of endocrine gland;malignant tumor of the endocrine gland;malignant tumour of endocrine gland;neoplasm of endocrine gland;neoplasm of endocrine system
Malignant epithelial tumor of ovary	Orphanet_398934	N/A	Epithelial cancer of ovary;Ovarian epithelial cancer;Ovarian malignant epithelial tumor
Malignant exocrine pancreas neoplasm	MONDO_0002116	A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	cancer of exocrine pancreas;exocrine pancreas cancer;malignant exocrine pancreas neoplasm;malignant exocrine pancreas tumor;malignant neoplasm of exocrine pancreas;malignant neoplasm of the exocrine pancreas;malignant tumor of exocrine pancreas;malignant tumor of the exocrine pancreas
Malignant germ cell tumor	EFO_1000352	A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.	cancer of germ cell;germ cell cancer;germ cell tumor, malignant;malignant germ cell neoplasm;malignant germ cell tumor;malignant neoplasm of germ cell;malignant neoplasm of the germ cell;malignant tumor of germ cell;malignant tumor of the germ cell
Malignant germ cell tumor of ovary	MONDO_0018171	Malignant germ cell tumor of ovary is a rare ovarian cancer (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.	MOGCT;malignant germ cell neoplasm of ovary;malignant germ cell neoplasm of the ovary;malignant germ cell tumor of ovary;malignant germ cell tumor of the ovary;malignant ovarian germ cell neoplasm;malignant ovarian germ cell tumor;ovarian germ cell cancer;ovary malignant germ cell tumor
Malignant glioma	MONDO_0015917	A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.	glial cell tumor;glioma, malignant;high grade glioma;high-grade glioma;malignant glial neoplasm;malignant glial tumor;malignant glioma;malignant neuroglial neoplasm;malignant neuroglial tumor
Malignant mesothelioma	EFO_1000355	A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.	advanced malignant mesothelioma;asbestos-related malignant mesothelioma;diffuse malignant mesothelioma;malignant mesothelial neoplasm;malignant mesothelial tumor;malignant mesothelioma;malignant mesothelioma (disease);malignant neoplasm of mesothelium;malignant neoplasm of the mesothelium;malignant tumor of mesothelium;malignant tumor of the mesothelium;mesothelioma, malignant
Malignant mixed neoplasm	EFO_1000356	A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.	malignant mixed cancer;malignant mixed neoplasm;malignant mixed tumor;mixed neoplasm, malignant;mixed tumor;mixed tumor, malignant;mixed tumor, malignant (morphologic abnormality);mixed tumor, malignant, NOS (morphologic abnormality);tumor, mixed, malignant
Malignant non-dysgerminomatous germ cell tumor of ovary	MONDO_0016096	A malignant germ cell tumor other than dysgerminoma that arises from the ovary.	non-dysgerminomatous germ cell cancer of ovary;ovarian Nondysgerminomatous germ cell tumor;ovarian non-dysgerminomatous germ cell tumor
Malignant non-epithelial tumor of ovary	MONDO_0018365	N/A	non-epithelial cancer of ovary;ovarian malignant non-epithelial tumor;ovarian non-epithelial cancer
Malignant ovarian serous tumor	MONDO_0024885	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.	malignant ovarian serous tumor;ovarian serous tumor, malignant
Malignant pancreatic neoplasm	EFO_1000359	A malignant neoplasm involving the pancreas.;A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003	Ca body of pancreas;Ca head of pancreas;Ca tail of pancreas;cancer of pancreas;malignant neoplasm of body of pancreas;malignant neoplasm of head of pancreas;malignant neoplasm of pancreas;malignant neoplasm of tail of pancreas;malignant neoplasm of the pancreas;malignant pancreas neoplasm;malignant pancreatic neoplasm;pancreas cancer;pancreas neoplasm;pancreatic cancer;pancreatic neoplasm;pancreatic tumor
Malignant peripheral nerve sheath tumor	EFO_0000760	An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life.  It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region.  It may be associated with neurofibromatosis 1 (NF1).;Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.	Epithelioid MPNST;MPNST;MPNST - Malignant peripheral nerve sheath tumor;MPNST - Malignant peripheral nerve sheath tumour;MPNST with glandular differentiation;MPNST with mesenchymal differentiation;MPNSTs;Malignant Neoplasm of Peripheral Nerve Sheath;Malignant Neurilemmoma;Malignant Neurilemoma;Malignant Peripheral Nerve Sheath Neoplasm;Malignant Peripheral Nerve Sheath Tumors;Malignant Peripheral Nerve Sheath Tumour;Malignant Schwannoma;Malignant Tumor of Peripheral Nerve Sheath;Malignant Tumor of the Peripheral Nerve Sheath;Malignant peripheral nerve sheath tumor (morphologic abnormality);Malignant peripheral nerve sheath tumor [dup] (morphologic abnormality);Melanotic MPNST;Melanotic psammomatous MPNST;Neurofibrosarcoma;Neurofibrosarcoma [obs];Neurogenic sarcoma;Neurogenic sarcoma [obs];Neurosarcoma;Neurosarcoma [obs];Perineurioma;Perineuriomas;Peripheral Nerve Sheath Tumors, Malignant;malignant neoplasm of the peripheral nerve Sheath;malignant peripheral nerve sheath tumor (disorder)
Malignant phyllodes tumor	MONDO_0037003	A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.	malignant cystosarcoma phyllodes;malignant phyllodes neoplasm;malignant phyllodes tumor;phyllodes tumor, malignant
Malignant pleural mesothelioma	EFO_0000770	A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.	Malignant Mesothelioma of the Pleura;Mesothelioma (malignant) of pleura (disorder);Pleural Malignant Mesothelioma;malignant mesothelioma of pleura;malignant mesothelioma of pleura (disorder);malignant mesothelioma of the pleura;malignant pleural mesothelioma;pleura mesothelioma;pleural diffuse malignant mesothelioma;pleural malignant mesothelioma
Malignant pleural neoplasm	EFO_1000362	A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.	cancer of pleura;cancer of the pleura;malignant neoplasm of pleura;malignant neoplasm of the pleura;malignant pleura neoplasm;malignant pleural neoplasm;malignant pleural tumor;malignant tumor of pleura;malignant tumor of the pleura;pleura cancer;pleural cancer
Malignant rhabdoid tumour	EFO_0005701	An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.;Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms tumour, which is primarily a kidney tumour that occurs mainly in children.	MRT;Rhabdoid Sarcoma;Rhabdoid Tumor;malignant rhabdoid tumor;malignant rhabdoid tumour;rhabdoid sarcoma;rhabdoid tumor
Malignant soft tissue neoplasm	MONDO_0024637	A malignant neoplasm arising exclusively from the soft tissues.	malignant neoplasm of soft tissue;malignant neoplasm of the soft tissue;malignant soft tissue neoplasm;malignant soft tissue tumor;malignant tumor of soft tissue;malignant tumor of the soft tissue
Malignant testicular germ cell tumor	MONDO_0003510	A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.	malignant germ cell neoplasm of testis;malignant germ cell neoplasm of the testis;malignant germ cell tumor of testis;malignant germ cell tumor of the testis;malignant testicular germ cell neoplasm;malignant testicular germ cell tumor;testicular ca. (no germ/tropho.);testicular cancer;testicular cancer (excluding germ cell or trophoblastic cancer);testicular germ cell cancer
Malignant tumor of adrenal cortex	MONDO_0021312	A cancer that involves the adrenal cortex.	adrenal cortex cancer;cancer of adrenal cortex;malignant adrenal cortex neoplasm;malignant adrenal cortex tumor;malignant adrenocortical neoplasm;malignant adrenocortical tumor;malignant neoplasm of adrenal cortex;malignant neoplasm of the adrenal cortex;malignant tumor of the adrenal cortex
Malignant tumor of extrahepatic bile duct	MONDO_0021321	A cancer that involves the extrahepatic bile duct.	cancer of extrahepatic bile duct;extrahepatic bile duct cancer;malignant extrahepatic bile duct neoplasm;malignant extrahepatic bile duct tumor;malignant neoplasm of extrahepatic bile duct;malignant neoplasm of the extrahepatic bile duct;malignant tumor of the extrahepatic bile duct
Malignant tumor of neck	MONDO_0021310	A cancer that involves the neck.	cancer of neck;cancer of the neck;malignant neck neoplasm;malignant neck tumor;malignant neoplasm of neck;malignant neoplasm of the neck;malignant tumor of the neck;neck cancer
Malignant tumor of parathyroid gland	MONDO_0021311	A cancer that involves the parathyroid gland.	cancer of parathyroid gland;malignant neoplasm of parathyroid;malignant neoplasm of parathyroid gland;malignant neoplasm of the parathyroid;malignant neoplasm of the parathyroid gland;malignant parathyroid gland neoplasm;malignant parathyroid gland tumor;malignant parathyroid neoplasm;malignant parathyroid tumor;malignant tumor of parathyroid;malignant tumor of the parathyroid;malignant tumor of the parathyroid gland;parathyroid cancer;parathyroid gland cancer
Malignant urinary system neoplasm	EFO_1000363	A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.	cancer of renal system;malignant neoplasm of renal system;malignant renal system neoplasm;malignant urinary system neoplasm;malignant urinary tract neoplasm;renal system cancer;urinary system cancer
Malt lymphoma	EFO_0000191	An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001);Mucosa-Associated Lymphoid Tissue lymphoma. MALT lymphoma (MALToma) is a form of lymphoma involving the mucosa-associated lymphoid tissue (MALT), frequently of the stomach, but virtually any mucosal site can be afflicted. It is a cancer originating from B cells in the marginal zone of the MALT, and is also called extranodal marginal zone B cell lymphoma.	Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue;Extranodal marginal zone B-cell lymphoma;Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue;Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma);Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue;Immunocytoma;MALT lymphoma;MALT-lymphoma;MALToma;Mucosa-Associated Lymphoid Tissue Lymphoma;lymphoma of mucosa-associated lymphoid tissue;mucosa associated lymphoid tissue lymphoma;mucosa-associated lymphatic tissue lymphoma;mucosa-associated lymphoid tissue lymphoma;mucosa-associated lymphoma
Mandibular prognathia	HP_0000303	Abnormal prominence of the chin related to increased length of the mandible.	Big lower jaw;Big mandible;Enlarged mandible;Enlargement of mandible;Hyperplasia of lower jaw;Increased projection of lower jaw;Increased projection of mandible;Increased size of lower jaw;Large lower jaw;Large mandible;Lower jaw excess;Lower jaw hyperplasia;Macromandible;Mandible prognathism;Mandibular excess;Mandibular hyperplasia;Mandibular macrognathia;Mandibular prognathism;Prognathia;Prognathism;Prominent chin;Prominent jaw;Prominent lower jaw;Prominent mandible;Relative mandibular prognathism
Mantle cell lymphoma	EFO_1001469	Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.;a type of non-Hodgkin lymphoma (NHL). It develops when the body makes abnormal B-lymphocytes – the lymphoma cells. (B-lymphocytes are white blood cells that fight infection.) The lymphoma cells build up in lymph nodes.	LCM;Lymphoma, Small-Cell, Centrocytic;MCL;Mantle zone lymphoma;Mantle-Cell Lymphoma;classical mantle cell lymphoma;mantle cell lymphoma;mantle zone lymphoma
Marfan and marfan-related disorder	Orphanet_284993	N/A	N/A
Marfan syndrome	Orphanet_558	Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.	MFS
Marginal zone b-cell lymphoma	EFO_1000630	A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.	MZBCL;MZL;lymphoma of marginal zone B cell;marginal zone B cell lymphoma;marginal zone B-cell lymphoma;marginal zone lymphoma
Mast cell neoplasm	EFO_0009000	A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001);A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001) [ NCIT:C9295 ]	Mast cell proliferative disease;Mast cell tumor;mast cell neoplasm;mast cell tumor;mastocytoma;neoplasm of Mast cells;neoplasm of the Mast cells;tumor of Mast cells;tumor of the Mast cells
Mastitis	EFO_1001034	INFLAMMATION of the BREAST, or MAMMARY GLAND.;Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection.	Inflammatory breast disease;Inflammatory disease of breast;Inflammatory disorder of breast (disorder);Mastitis;breast infection;breast inflammation;breast inflammation NOS;breast inflammation NOS (disorder);inflammation of breast;inflammatory breast disease;inflammatory disease of breast;mastitis
Mastocytosis	EFO_0009001	A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.;A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. [ NCI ]	MCAS;Mast Cell Activation Disease;Mast Cell Activation Syndrome;Mast Cell Activation Syndromes;Mast Cell Disease;Mast cell disease;Mast-Cell Disease;mast cell hyperplasia;mastocytosis
Matrilysin measurement	EFO_0008227	quantification of the amount of matrilysin in a sample	N/A
Mature t-cell and nk-cell non-hodgkin lymphoma	MONDO_0000430	This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.	PTCL;mature T-and NK-cell lymphoma;mature T-cell and NK-cell lymphoma;mature T-cell and NK-cell non-Hodgkin lymphoma;mature T-cell and NK-cell non-Hodgkin's lymphoma;mature T-cell lymphoma;mature T-cell non-Hodgkin's lymphoma;peripheral T-cell lymphoma
Maxillary neoplasm	EFO_0007360	A jaw cancer and maxillary disease that effects the maxilla or upper jaw.;Cancer or tumors of the maxilla or upper jaw.	Maxillary Neoplasms;bone of upper jaw neoplasm;bone of upper jaw neoplasm (disease);bone of upper jaw tumor;maxillary neoplasm;neoplasm of bone of upper jaw;tumor of bone of upper jaw
Maxillary sinus carcinoma	MONDO_0001748	A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.	cancer of maxillary sinus;carcinoma of maxillary sinus;malignant maxillary sinus neoplasm;malignant maxillary sinus tumor;malignant neoplasm of antrum;malignant neoplasm of maxillary sinus;malignant neoplasm of the maxillary sinus;malignant tumor of maxillary sinus;malignant tumor of the maxillary sinus;maxillary sinus cancer;maxillary sinus carcinoma
Maxillary sinus neoplasm	EFO_1001035	A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.;Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms.	Maxillary Sinus Neoplasms;maxillary antrum neoplasm;maxillary antrum tumor;maxillary sinus neoplasm;maxillary sinus neoplasm (disease);maxillary sinus tumor;maxillofacial sinus neoplasm;maxillofacial sinus tumor;neoplasm of maxillary antrum;neoplasm of maxillary sinus;neoplasm of maxillary sinus (disorder);neoplasm of maxillofacial sinus;neoplasm of the maxillary antrum;neoplasm of the maxillary sinus;neoplasm of the maxillofacial sinus;tumor of Maxillofacial sinus;tumor of maxillary antrum;tumor of maxillary sinus;tumor of maxillofacial sinus;tumor of the maxillary antrum;tumor of the maxillary sinus;tumor of the maxillofacial sinus
Maximal oxygen uptake measurement	EFO_0004887	Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness	VO2 max;maximal aerobic capacity;maximal oxygen consumption;maximal oxygen uptake;peak oxygen uptake
Mean arterial pressure	EFO_0006340	The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure.	MAP
Mean corpuscular hemoglobin concentration	EFO_0004528	The mean corpuscular hemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell	CHCM;Corpuscular HGB Concentration Mean;Corpuscular Hemoglobin Concentration Mean;Erythrocyte Corpuscular Hemoglobin Concentration Mean;MCHC;mean corpuscular haemoglobin concentration
Mean corpuscular hemoglobin	EFO_0004527	The MCH is  the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count	MCH;mean corpuscular haemoglobin
Mean corpuscular volume	EFO_0004526	A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample.	MCV;mean cell volume
Mean platelet volume	EFO_0004584	A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood	N/A
Measles	EFO_1002025	A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).;A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [  url:http://en.wikipedia.org/wiki/Measles  ]	Measles morbillivirus caused disease or disorder;Measles morbillivirus disease or disorder;Measles morbillivirus infectious disease;measles;morbilli;rubeola infection
Medullary thyroid gland carcinoma	MONDO_0015277	A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.	C cell carcinoma;MTC;carcinoma of parafollicular cell;carcinoma, C-cell, malignant;medullary Thyroid cancer;medullary Thyroid carcinoma;medullary Thyroid gland carcinoma;medullary carcinoma;medullary carcinoma of Thyroid;medullary carcinoma of Thyroid gland;medullary carcinoma of the Thyroid;medullary carcinoma of the Thyroid gland;medullary thyroid cancer;medullary thyroid carcinoma;parafollicular cell carcinoma;thyroid gland medullary cancer;thyroid gland medullary carcinoma;thyroid gland neuroendocrine carcinoma;thyroid medullary carcinoma;ultimobranchial thyroid tumor;ultimobranchial thyroid tumour
Medulloblastoma	EFO_0002939	A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1);A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus);A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.	Adult Medulloblastoma;Adult Medulloblastomas;Arachnoidal Cerebellar Sarcoma, Circumscribed;Childhood Medulloblastoma;Childhood Medulloblastomas;Desmoplastic Medulloblastoma;Desmoplastic Medulloblastomas;Medulloblastoma, Adult;Medulloblastoma, Childhood;Medulloblastoma, Desmoplastic;Medulloblastoma, Melanocytic;Medulloblastomas;Medulloblastomas, Adult;Medulloblastomas, Childhood;Medulloblastomas, Desmoplastic;Medulloblastomas, Melanocytic;Medullomyoblastoma;Medullomyoblastomas;Melanocytic Medulloblastoma;Melanocytic Medulloblastomas;Sarcoma, Cerebellar, Circumscribed Arachnoidal;brain medulloblastoma;cerebellum embryonal neoplasm;medulloblastoma;medulloblastoma, malignant
Medulloepithelioma	HP_0030071	A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.	N/A
Megaloblastic anemia (disease)	MONDO_0001700	Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.	Grasbeck-Imerslund syndrome;Imerslund-Grasbeck syndrome;MGA1 Norwegian type;RH-MGA1;megaloblastic anemia;recessive hereditary megaloblastic anemia 1
Melanocytic neoplasm	MONDO_0021143	N/A	melanocytic neoplasm
Melanocytic skin neoplasm	MONDO_0021583	A melanocytic neoplasm that involves the zone of skin.	cutaneous melanocytic neoplasm;melanocytic neoplasm of skin;melanocytic neoplasm of zone of skin;melanocytic skin neoplasm;zone of skin melanocytic neoplasm
Melanoma	EFO_0000756	A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445);A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes.  Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma.  Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi.  Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system.  Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.;A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	MM - Malignant melanoma;Malignant Melanoma;Malignant Melanomas;Malignant melanoma (morphologic abnormality);Malignant melanoma, NOS;Malignant melanoma, morphology (morphologic abnormality);Malignant melanoma, no ICD-O subtype;Malignant melanoma, no ICD-O subtype (morphologic abnormality);Melanoma, Malignant;Melanoma, NOS;Melanomas;Melanomas, Malignant;Melanosarcoma;Naevocarcinoma;[M]Malignant melanoma NOS;[M]Malignant melanoma NOS (morphologic abnormality);malignant melanoma;malignant melanoma (disorder);malignant melanoma NOS (morphologic abnormality);melanoma;melanoma (disease);melanoma, malignant
Melasma	HP_0025272	Symmetrical, blotchy, brownish facial pigmentation.	Chloasma;Facial melanosis
Melas syndrome	DOID_3687	N/A	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
Membranous glomerulonephritis	EFO_0004254	A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.;A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane.	Heymann nephritis;glomerulonephritis, membranous;idiopathic membranous nephropathy;membranous Glomerulonephropathy;membranous glomerulonephritis;membranous glomerulonephropathy;membranous nephropathy;nephropathy (idiopathic membranous)
Membranous nephropathy	HP_0012578	A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.	Membranous glomerulonephritis
Meningeal neoplasm	EFO_0003851	Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.	BENIGN MENINGEAL NEOPL;Benign Meningeal Neoplasm;Benign Meningeal Neoplasms;Cancer, Meningeal;Cancers, Meningeal;INTRACRANIAL MENINGEAL NEOPL;Intracranial Meningeal Neoplasm;Intracranial Meningeal Neoplasms;LEPTOMENINGEAL NEOPL;Leptomeningeal Neoplasm;Leptomeningeal Neoplasms;MALIGNANT MENINGEAL NEOPL;MENINGEAL NEOPL;MENINGEAL NEOPL BENIGN;MENINGEAL NEOPL INTRACRANIAL;MENINGEAL NEOPL MALIGNANT;Malignant Meningeal Neoplasm;Malignant Meningeal Neoplasms;Meningeal Cancer;Meningeal Cancers;Meningeal Neoplasm, Benign;Meningeal Neoplasm, Intracranial;Meningeal Neoplasm, Malignant;Meningeal Neoplasm, Spinal;Meningeal Neoplasms;Meningeal Neoplasms, Benign;Meningeal Neoplasms, Intracranial;Meningeal Neoplasms, Malignant;Meningeal Neoplasms, Spinal;Meningeal Tumor;Meningeal Tumors;NEOPL LEPTOMENINGEAL;NEOPL MENINGEAL;Neoplasm, Benign Meningeal;Neoplasm, Intracranial Meningeal;Neoplasm, Leptomeningeal;Neoplasm, Malignant Meningeal;Neoplasm, Meningeal;Neoplasm, Spinal Meningeal;Neoplasms, Benign Meningeal;Neoplasms, Intracranial Meningeal;Neoplasms, Leptomeningeal;Neoplasms, Malignant Meningeal;Neoplasms, Meningeal;Neoplasms, Spinal Meningeal;SPINAL MENINGEAL NEOPL;Spinal Meningeal Neoplasm;Spinal Meningeal Neoplasms;Tumor, Meningeal;Tumors, Meningeal
Meningioma	Orphanet_2495	Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.	N/A
Meningitis (disease)	MONDO_0021108	A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.	inflammation of meninx;meningitis;meninx inflammation
Meningitis	HP_0001287	Inflammation of the meninges.	N/A
Mental deterioration	HP_0001268	Loss of previously present mental abilities, generally in adults.	Cognitive decline;Cognitive decline, progressive;Intellectual deterioration;Mental deterioration;Progressive cognitive decline
Mental or behavioural disorder	EFO_0000677	A disease that has its basis in the disruption of mental process.;Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994);Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH).	Behavior Disorder;Brief Reactive Psychoses;Brief Reactive Psychosis;Disorder, Psychotic;Disorders, Psychotic;Mental Disorder;PSYCHOTIC DIS;Psychiatric Disorder;Psychoses;Psychoses, Brief Reactive;Psychosis, Brief Reactive;Psychotic Disorder;Psychotic Disorders;Reactive Psychoses, Brief;Reactive Psychosis, Brief;disease of mental health;disorder of mental process;mental disorder;mental disorders;mental or behavioral disorder;mental or behavioural disorder;mental process disease
Merkel cell skin cancer	EFO_1001471	A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)	Merkel Cell Cancer;Merkel Cell Carcinoma;Merkel Cell Tumor;Merkle Tumors
Mesangial hypercellularity	HP_0012574	Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment.	Mesangial proliferation
Mesenchymal cell neoplasm	MONDO_0002616	A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.	benign miscellaneous mesenchymal tumor;mesenchymal cell neoplasm;mesenchymal cell tumor;mesenchymal neoplasm;mesenchymal tumor
Mesenchymal stem cell	EFO_0000586	N/A	conditioned mesenchymal stem cell
Mesomelic and rhizo-mesomelic dysplasia	Orphanet_93438	N/A	N/A
Mesothelial neoplasm	EFO_1001044	A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003;Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)	Mesothelial neoplasm (morphologic abnormality);Mesothelial neoplasm NOS (morphologic abnormality);Mesothelial tumor;Mesothelial tumor morphology (qualifier value);Neoplasms, Mesothelial;mesothelial neoplasm;mesothelial tumor
Mesothelioma	EFO_0000588	A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed);A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.	Malignant mesothelioma;Mesothelioma, NOS;Mesothelioma, malignant;Mesothelioma, malignant (morphologic abnormality);Mesothelioma, unspecified (disorder);Mesothelioma, unspecified (morphologic abnormality);Mesotheliomas;[M]Mesothelioma, unspecified;[M]Mesothelioma, unspecified (morphologic abnormality);[X]Mesothelioma, unspecified;[X]Mesothelioma, unspecified (disorder);mesothelioma
Metabolic disease associated with ocular features	Orphanet_98710	N/A	N/A
Metabolic disease	EFO_0000589	A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.;A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003;A disease that involving errors in metabolic processes.;Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)	DIS METAB;Disease, Metabolic;Diseases, Metabolic;Disorder of metabolism NOS;Disorder of metabolism NOS (disorder);Generalised metabolic disorder;Generalized metabolic disorder;Generalized metabolic disorder (disorder);MD - Metabolic disorders;METAB DIS;METABOLISM DISORDER NOS;Metabolic Diseases;Metabolic Disorder;Metabolic disease (disorder);Metabolic disease, NOS;Metabolic disorder, NOS;Metabolic disorders;Thesaurismoses;Thesaurismosis;Unspecified disorder of metabolism;disease of metabolism;disorder of metabolic process;metabolic disease;metabolic process disease;metabolism disorder
Metabolic disease with cataract	Orphanet_98712	N/A	N/A
Metabolic disease with corneal opacity	Orphanet_98711	N/A	N/A
Metabolic disease with dementia	Orphanet_98543	N/A	N/A
Metabolic disease with epilepsy	MONDO_0015656	N/A	metabolic diseases with epilepsy
Metabolic myopathy	Orphanet_98486	N/A	N/A
Metabolic rate measurement	EFO_0005115	a quantification of metabolic rate	N/A
Metabolic syndrome	EFO_0000195	A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556);A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose.	Cardiovascular Syndrome, Metabolic;Cardiovascular Syndromes, Metabolic;Dysmetabolic Syndrome X;Insulin Resistance Syndrome X;Metabolic Cardiovascular Syndrome;Metabolic Syndrome X;Metabolic X Syndrome;Reaven Syndrome X;Syndrome X, Dysmetabolic;Syndrome X, Insulin Resistance;Syndrome X, Metabolic;Syndrome X, Reaven;Syndrome, Metabolic Cardiovascular;Syndrome, Metabolic X;X Syndrome, Metabolic;metabolic syndrome;metabolic syndrome X
Metabolite measurement	EFO_0004725	The quantification of some metabolite.;This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class.	metabolite levels;metabolite traits
Metachromatic leukodystrophy	Orphanet_512	Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.	Arylsulfatase A deficiency;MLD;Scholz cerebral sclerosis;arylsulfatase A deficiency;deficiency of cerebroside-sulfatase;metachromatic leukodystrophy;sulfatide lipoidosis
Metalloproteinase inhibitor 3 measurement	EFO_0008231	quantification of the amount of metalloproteinase inhibitor 3 in a sample	N/A
Metastasis	EFO_0009708	The spread or migration of cancer cells from one part of the body (where they first appeared) to another. The secondary tumor contains cells that are like those in the original (primary) tumor. [ NCI ]	cancer metastasis;neoplasm metastasis;tumor cell migration;tumor metastasis
Metastatic colorectal cancer	EFO_1001480	colorectal cancer that has already spread to distant sites and is considered stage IV	N/A
Metastatic melanoma	EFO_0002617	A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	metastatic malignant melanoma;metastatic melanoma
Metastatic neoplasm	EFO_0009709	A neoplasm that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastatic growth is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology. [ NCI ];A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.	metastatic disease;metastatic neoplasm;metastatic tumor
Metastatic prostate cancer	EFO_0000196	A carcinoma that arises from the prostate gland and has spread to other anatomic sites.	Metastatic Prostate Carcinoma;metastatic prostate cancer;metastatic prostate carcinoma;prostate cancer metastatic;prostate carcinoma metastatic
Methylmalonic acidemia	MONDO_0002012	A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.	methylmalonic aciduria
Mg63	EFO_0002234	N/A	N/A
Mhc class i polypeptide-related sequence a measurement	EFO_0008233	quantification of the amount of MHC class I polypeptide-related sequence A in a sample	N/A
Mhc class i polypeptide-related sequence b measurement	EFO_0008234	quantification of the amount of MHC class I polypeptide-related sequence B in a sample	N/A
Mhpg measurement	EFO_0005133	quantification of 3-methoxy-4-hydroxyphenylglycol in measured in urine, plasma or cerebrospinal fluid. MHPG is reported to be associated with neuropsychiatric disorders.	N/A
Microalbuminuria	HP_0012594	The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day).	High urine albumin levels
Microcytic anemia	MONDO_0001245	Anemia in which the red blood cell volume is decreased.	N/A
Microscopic polyangiitis	EFO_1000784	A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls.;Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.	Hypersensitivity angiitis;MPA;Micropolyangiitis;Microscopic polyarteritis;microscopic polyangiitis;microscopic polyarteritis
Middle cerebral artery infarction	EFO_1001045	NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.;necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.	Infarction, Middle Cerebral Artery;middle cerebral artery infarction
Middle ear disease	MONDO_0003276	A disease involving the middle ear.	disease of middle ear;disease or disorder of middle ear;disorder of middle ear;middle Ear disorder;middle ear disease;middle ear disease or disorder
Migraine disorder	EFO_0003821	A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1);A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.	Abdominal Migraine;Abdominal Migraines;Acute Confusional Migraine;Acute Confusional Migraines;Cervical Migraine Syndrome;Cervical Migraine Syndromes;Disorder, Migraine;Disorders, Migraine;Headache, Migraine;Headache, Sick;Headaches, Migraine;Headaches, Sick;Hemicrania Migraine;Hemicrania Migraines;Migraine;Migraine Disorders;Migraine Headache;Migraine Headaches;Migraine Syndrome, Cervical;Migraine Syndromes, Cervical;Migraine Variant;Migraine Variants;Migraine, Abdominal;Migraine, Acute Confusional;Migraine, Hemicrania;Migraines;Migraines, Abdominal;Migraines, Acute Confusional;Migraines, Hemicrania;Sick Headache;Sick Headaches;Status Migrainosus;Variant, Migraine;Variants, Migraine;migraine;migraine disorder;migraine headache;migraine variant;migraine with or without aura
Migraine with aura	EFO_0005295	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.;A type of `migraine` in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.	classic migraine;migraine with aura
Miller fisher syndrome	EFO_0007371	A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.;An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.	Fisher syndrome;Fisher's syndrome;Fisher's syndrome (disorder);Guillain Barre syndrome, Miller Fisher variant;Guillain-Barre syndrome, Miller Fisher variant;Miller Fisher Syndrome;Miller Fisher syndrome;Miller Fisher variant of Guillain Barre syndrome;Miller-Fisher syndrome;Miller-Fisher variant of Guillain-Barre syndrome;cranial variant of GBS;cranial variant of Guillain-BarrC) syndrome;cranial variant of Guillain-Barré syndrome;ophthalmoplegia, ataxia and areflexia syndrome;syndrome, Fisher;syndrome, Miller Fisher;syndrome, Miller-Fisher
Milroy disease	Orphanet_79452	Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.	Hereditary lymphedema type I;Milroy's disease;Milroy-like disease;Nonne-Milroy lymphedema;congenital primary lymphedema;hereditary lymphedema;hereditary lymphedema type I;lymphedema, hereditary
Mineral metabolism disease	EFO_0009556	Abnormal levels of minerals in the blood.	disease of mineral metabolism;disorder of mineral metabolism;mineral metabolism disease
Miscellaneous movement disorder due to genetic neurodegenerative disease	Orphanet_307058	N/A	N/A
Miscellaneous movement disorder due to neurodegenerative disease	MONDO_0017641	N/A	N/A
Mitochondrial disease	Orphanet_68380	N/A	N/A
Mitochondrial encephalomyopathy	MONDO_0004675	A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)	N/A
Mitochondrial myopathy	Orphanet_206966	N/A	N/A
Mitral valve disease	EFO_0009557	A disease involving the mitral valve.	chronic rheumatic mitral valve;disease of mitral valve;disease or disorder of mitral valve;disorder of mitral valve;mitral RH valve dis.;mitral valve disease;mitral valve disease or disorder;mitral valve disorder
Mitral valve prolapse	HP_0001634	One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.	N/A
Mixed connective tissue disease	EFO_0007374	A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.;Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus , scleroderma , and polymyositis . Some affected people may also have symptoms of rheumatoid arthritis . Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) , corticosteroids and immunosuppresivedrugsmay help manage the symptoms.	Connective tissue disease overlap syndrome (disorder);MCTD;Mixed Connective Tissue Disease;connective tissue disease overlap syndrome;mixed collagen vascular disease;mixed collagen vascular disease (disorder);mixed connective tissue disease;sharp syndrome
Mixed endometrial stromal and smooth muscle tumor	MONDO_0004526	A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.	Stromomyoma;mixed endometrial stromal and smooth muscle neoplasm;uterine corpus soft tissue neoplasm
Mixed glioma	MONDO_0003268	A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).	glioma, mixed;glioma, mixed, malignant;mixed glial neoplasm;mixed glial tumor;mixed glioma;mixed glioma (morphologic abnormality);mixed gliomas;mixed neuroglial neoplasm;mixed neuroglial tumor
Mixed neoplasm	MONDO_0021043	A neoplasm composed of at least two distinct cellular populations.	mixed neoplasm;mixed tumor
Mixed neuronal-glial tumor	MONDO_0016729	A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)	neuronal and Glio-neuronal neoplasm;neuronal and Glio-neuronal tumor;neuronal and mixed neuronal-glial tumor;neuronal and mixed neuronal-glial tumors
Mixed tumor of the salivary gland	EFO_1000384	A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma.;A neoplasm (disease) that involves the saliva-secreting gland.	neoplasm of saliva-secreting gland;neoplasm of salivary gland;neoplasm of the salivary gland;saliva-secreting gland neoplasm;saliva-secreting gland neoplasm (disease);saliva-secreting gland tumor;salivary gland neoplasm;salivary gland tumor;tumor of saliva-secreting gland;tumor of salivary gland;tumor of the salivary gland
Miyoshi myopathy	Orphanet_45448	Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes.;Miyoshi myopathy (MM) is a distal myopathy (see this term), characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.	Miyoshi muscular dystrophy;Miyoshi muscular dystrophy type 1;Miyoshi myopathy
M��llerian aplasia	Orphanet_73217	N/A	Aplasia of the Müllerian ducts;Mullerian duct failure;Müllerian duct failure;aplasia of the Mullerian ducts;aplasia of the Müllerian ducts;mullerian aplasia
Molar-incisor hypomineralization	EFO_0005321	a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors	MIH;molar-incisor hypomineralization
Momo syndrome	Orphanet_2563	MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.;MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high broad forehead and delay in bone maturation in association with normal thyroid function and karyotype.	MOMO syndrome;Macrocephaly-obesity-mental disability-ocular abnormalities syndrome;Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome;macrocephaly-obesity-mental disability-ocular abnormalities syndrome;macrosomia-obesity-macrocephaly-ocular abnormalities syndrome;momo syndrome
Monocyte count	EFO_0005091	quantification of monocytes in the blood	N/A
Monocyte percentage of leukocytes	EFO_0007989	A calculated measurement in which the number of monocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. 	blood monocyte count to total leukocyte count ratio;monocyte count as percentage of total white blood cells;monocyte count to total WBC count ratio;monocyte percentage;monocyte percentage of white cells
Monocytic leukemia	MONDO_0004600	N/A	schilling's leukemia
Monogenic disease	MONDO_0000275	A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).	N/A
Monogenic disease with epilepsy	Orphanet_166472	N/A	N/A
Monokine induced by gamma interferon measurement	EFO_0008236	quantification of the amount of monokine induced by gamma interferon in a sample	N/A
Mononegavirales infectious disease	EFO_0007376	A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses.;Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.	Mononegavirales Infections;Mononegavirales caused disease or disorder;Mononegavirales disease or disorder;Mononegavirales infectious disease
Monosomy	MONDO_0020639	A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.	monosomy
Mood disorder	EFO_0004247	A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.;Those disorders that have a disturbance in mood as their predominant feature.	affective disorders;major mood disorders;mood disorder;mood disorders
Morbillivirus infectious disease	EFO_0007377	A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus.;Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.	Morbillivirus Infections;Morbillivirus caused disease or disorder;Morbillivirus disease or disorder;Morbillivirus infectious disease;morbillivirus infectious disease
Mosquito bite reaction size measurement	EFO_0008378	quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire	N/A
Mosquito-borne viral encephalitis	MONDO_0020601	Viral encephalitis that is transmitted by mosquitos.	mosquito-borne viral encephalitis
Motion sickness	EFO_0006928	sympton caused by motion, as sea sickness, train sickness, car sickness, air sickness, or space motion sickness. It may include nausea, vomiting and dizziness.	travel sickness
Motor neuron disease	EFO_0003782	A disease involving the motor neuron.;Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)	ANTERIOR HORN CELL DIS;Anterior Horn Cell Disease;FAMILIAL MOTOR NEURON DIS;Familial Motor Neuron Disease;LOWER MOTOR NEURON DIS;Lateral Scleroses;Lateral Sclerosis;Lower Motor Neuron Disease;MOTOR NEURON DIS;MOTOR NEURON DIS FAMILIAL;MOTOR NEURON DIS LOWER;MOTOR NEURON DIS SECOND;MOTOR NEURON DIS UPPER;MOTOR SYSTEM DIS;Motor Neuron Disease, Familial;Motor Neuron Disease, Lower;Motor Neuron Disease, Secondary;Motor Neuron Disease, Upper;Motor Neuron Diseases;Motor System Disease;Motor System Diseases;Neuron Disease, Motor;Neuron Diseases, Motor;SECOND MOTOR NEURON DIS;Scleroses, Lateral;Scleroses, Primary Lateral;Sclerosis, Lateral;Secondary Motor Neuron Disease;UPPER MOTOR NEURON DIS;Upper Motor Neuron Disease;anterior horn cell disease;disease of motor neuron;disease or disorder of motor neuron;disorder of motor neuron;motor neuron disease;motor neuron disease or disorder
Motor stereotypies	Orphanet_306765	N/A	N/A
Mouth disease	EFO_1001047	A disease involving the mouth.;Any disease of the oral cavity	disease of mouth;disease of the mouth;disease or disorder of mouth;disorder of mouth;mouth disease;mouth disease or disorder;mouth disorder;oral cavity disease;oral cavity disorder;oral disease;oral disorder
Mouth morphology measurement	EFO_0007955	quantification of some aspect of mouth morphology such as mouth width	N/A
Mouth mucosa disease	MONDO_0044992	A disease or disorder that involves the mouth mucosa.	disease of mouth mucosa;disease or disorder of mouth mucosa;disorder of mouth mucosa;disorder of oral mucous membrane;mouth mucosa disease or disorder;oral mucous membrane disease
Mouth neoplasm	EFO_0003868	A neoplasm (disease) that involves the oral cavity.;Tumors or cancer of the MOUTH.	Cancer of Mouth;Cancer of the Mouth;Cancer, Mouth;Cancer, Oral;Cancers, Mouth;Cancers, Oral;MOUTH NEOPL;Mouth Cancer;Mouth Cancers;Mouth Neoplasms;NEOPL MOUTH;NEOPL ORAL;Neoplasm, Mouth;Neoplasm, Oral;Neoplasms, Mouth;Neoplasms, Oral;ORAL NEOPL;Oral Cancer;Oral Cancers;Oral Cavity Neoplasm;Oral Neoplasm;Oral Neoplasms;mouth neoplasm;mouth tumor;neoplasm of oral cavity;oral cavity neoplasm;oral cavity neoplasm (disease);oral cavity tumor;tumor of oral cavity
Movement disorder	EFO_0004280	Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.;Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	movement disease;movement disorder;movement disorders;tardive dyskinesia
Moyamoya disease	Orphanet_2573	Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.;Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network to develop following a pattern resembling cigarette smoke ('moya-moya' in Japanese).	Moyamoya disease;idiopathic Moyamoya disease;progressive intracranial arterial occlusion
Moyamoya syndrome	MONDO_0018792	N/A	N/A
Moyomoya angiopathy	MONDO_0018791	N/A	N/A
Mucinous carcinoma	EFO_0000197	An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.	adenocarcinoma, mucinous, malignant;colloid adenocarcinoma;colloid carcinoma;gelatinous adenocarcinoma;gelatinous carcinoma;mucin-producing adenocarcinoma;mucin-producing adenocarcinoma (morphologic abnormality);mucin-secreting adenocarcinoma;mucin-secreting carcinoma;mucinous adenocarcinoma;mucinous carcinoma;mucinuos carcinoma;mucoid adenocarcinoma;mucoid carcinoma;mucous adenocarcinoma;mucous carcinoma;pseudomyxoma peritonei with unknown primary site
Mucinous neoplasm	MONDO_0024338	N/A	mucinous neoplasm;mucinous tumor
Mucinous ovarian cancer	MONDO_0024282	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.	malignant ovarian mucinous neoplasm;malignant ovarian mucinous tumor;ovarian mucinous neoplasm, malignant
Mucin-producing carcinoma	MONDO_0020596	N/A	mucin-producing carcinoma
Mucocutaneous lymph node syndrome	EFO_0004246	An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities.;Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.	Kawasaki disease;Kawasaki syndrome;Kawasaki's disease;MLNS;acute febrile MCLS;acute febrile mucocutaneous lymph node syndrome;acute febrile mucocutaneous lymph node syndrome [MCLS];infantile polyarteritis nodosa;mucocutaneous lymph node syndrome
Mucoepidermoid carcinoma	MONDO_0003036	A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.	MEC;mucoepidermoid carcinoma;mucoepidermoid carcinoma (morphologic abnormality)
Mucoepidermoid tumor	EFO_1001049	A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)	MEC;Mucoepidermoid Tumor;Mucoepidermoid neoplasm (morphologic abnormality);Mucoepidermoid neoplasm (morphology);Mucoepidermoid neoplasm NOS (morphologic abnormality);Mucoepidermoid tumor [obs];mucoepidermoid tumor
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Orphanet_102283	N/A	MCA/MR;Multiple congenital anomalies-intellectual disability with or without dysmorphism
Multiple congenital anomalies/dysmorphic syndrome	MONDO_0019042	N/A	N/A
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability	MONDO_0015161	N/A	MCA without intellectual disability;multiple congenital anomalies without intellectual disability with or without dysmorphism
Multiple endocrine neoplasia	Orphanet_276161	Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.	men;men syndrome;men syndromes;multiple endocrine adenomatosis;multiple endocrine neoplasia;multiple endocrine neoplasia syndrome;multiple endocrine neoplasia syndrome(s)
Multiple endocrine neoplasia type 1	Orphanet_652	Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary cancer syndrome marked mainly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution.;Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.	MEA type 1;MEA type I;MEN 1;MEN1;MEN1 multiple endocrine neoplasia;MEN1 syndrome;Wermer syndrome;Wermer's syndrome;men 1;men type 1;men type I;multiple endocrine adenomatosis;multiple endocrine adenomatosis type 1;multiple endocrine adenomatosis type I;multiple endocrine adenomatosis, type I;multiple endocrine neoplasia caused by mutation in MEN1;multiple endocrine neoplasia type 1;multiple endocrine neoplasia type 1 syndrome;multiple endocrine neoplasia type I;multiple endocrine neoplasia, type I
Multiple endocrine neoplasia type 2	Orphanet_653	Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).;Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT).	MEN2;multiple endocrine neoplasia type 2
Multiple metaphyseal dysplasia	Orphanet_93430	N/A	N/A
Multiple myeloma	EFO_0001378	A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia.  Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001);A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001);A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.;A myeloma that is located_in the plasma cells in bone marrow.	Cell Myeloma, Plasma;Cell Myelomas, Plasma;Disease, Kahler;Kahler disease;Kahler's disease;MULT MYE W/O ACHV RMSON;MULT MYELM W/O REMISSION;Multiple Myelomas;Multiple myeloma (clinical);Multiple myeloma (disorder);Multiple myeloma without mention of having achieved remission;Multiple myeloma without mention of remission;Multiple myeloma, morphology (morphologic abnormality);Multiple myeloma, no ICD-O subtype;Multiple myeloma, no ICD-O subtype (morphologic abnormality);Myeloma;Myeloma Multiple;Myeloma, Multiple;Myeloma, NOS;Myeloma, Plasma Cell;Myeloma, Plasma-Cell;Myeloma-Multiple;Myeloma-Multiples;Myelomas, Multiple;Myelomas, Plasma Cell;Myelomas, Plasma-Cell;Myelomatoses;Myelomatosis;Plasma Cell Myeloma;Plasma Cell Myelomas;Plasma-Cell Myeloma;Plasma-Cell Myelomas;Plasmacytic myeloma;[M]Plasma cell myeloma;medullary plasmacytoma;multiple myeloma;multiple myeloma/plasma cell myeloma;myeloid neoplasm of plasma cell;myeloma;myeloma, plasma cell, malignant;myelomatosis;plasma cell myeloid neoplasm;plasma cell myeloma
Multiple polyglandular tumor	Orphanet_100094	N/A	N/A
Multiple sclerosis	EFO_0003885	A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.;An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)	Disseminated Sclerosis;MS;MS (Multiple Sclerosis);MULTIPLE SCLEROSIS ACUTE FULMINATING;Multiple Sclerosis, Acute Fulminating;Sclerosis, Disseminated;Sclerosis, Multiple;multiple sclerosis
Multiple sclerosis variant	MONDO_0016428	N/A	N/A
Multiple sulfatase deficiency	Orphanet_585	Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.	Juvenile sulfatidosis, Austin type;MSD;Mucosulfatidosis
Multiple system atrophy	EFO_1001050	A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536);Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.	MSA;Multiple system atrophy (disorder);Shy-Drager Syndrome;Shy-Drager syndrome;Shy-McGee-Drager syndrome;multiple system atrophy;multisystem atrophy;orthostatic hypotension syndrome
Mumps virus infectious disease	EFO_0007383	A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.;A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person.	Mumps virus caused disease or disorder;Mumps virus disease or disorder;Mumps virus infectious disease;Rubulavirus Infections;Rubulavirus infectious disease;epidemic parotitis;mumps;mumps infectious disease
Muscle atrophy	EFO_0009851	The loss of muscle tissue due to inactivity or disease.	muscle wasting
Muscle cancer	EFO_0007384	A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.;A musculoskeletal system cancer that is located_in muscle.	Myosarcoma;Myosarcoma (morphologic abnormality);cancer of muscle structure;malignant muscle neoplasm;malignant muscle structure neoplasm;malignant muscle tumor;malignant neoplasm of muscle;malignant neoplasm of muscle structure;malignant neoplasm of muscle, NOS;malignant neoplasm of the muscle;malignant tumor of muscle;malignant tumor of muscle (disorder);malignant tumor of the Muscle;malignant tumor of the muscle;muscle cancer;muscle structure cancer;myosarcoma
Muscle measurement	EFO_0004515	A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual.	muscle mass;muscle mass measurement
Muscle tissue disease	MONDO_0003939	A disease involving the muscle tissue.	disease of muscle tissue;disease or disorder of muscle tissue;disorder of muscle tissue;muscle tissue disease;muscle tissue disease or disorder
Muscle weakness	HP_0001324	Reduced strength of muscles.	N/A
Muscular disease	EFO_0002970	A muscular disease in which the muscle fibers do not function resulting in muscular weakness.;Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.;Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle.;Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle.	MUSCLE DIS;MUSCULAR DIS;Muscle Disorder;Muscle Disorders;Muscular Diseases;Myopathic Condition;Myopathic Conditions;disease of muscle organ;disease or disorder of muscle organ;disorder of muscle organ;muscle organ disease;muscle organ disease or disorder;muscular disease
Muscular dystrophy	Orphanet_98473	N/A	N/A
Muscular glycogenosis	Orphanet_206959	N/A	Glycogen storage myopathy
Muscular lipidosis	Orphanet_206953	N/A	Lipid storage myopathy
Muscular tumor	MONDO_0016123	N/A	N/A
Musculoskeletal disease with cataract	Orphanet_98648	N/A	N/A
Musculoskeletal system benign neoplasm	MONDO_0000636	A benign neoplasm that involves the musculoskeletal system.	musculoskeletal system benign neoplasm
Musculoskeletal system cancer	MONDO_0000637	A malignant neoplasm involving the musculoskeletal system	cancer of musculoskeletal system;malignant musculoskeletal system neoplasm;malignant neoplasm of musculoskeletal system;musculoskeletal system cancer
Musculoskeletal system disease	EFO_0009676	A disease involving the musculoskeletal system.;A disease involving the musculoskeletal system. [database_cross_reference: MONDO:DesignPattern]	disease of musculoskeletal system;disease or disorder of musculoskeletal system;disorder of musculoskeletal system;musculoskeletal disease;musculoskeletal system disease;musculoskeletal system disease or disorder;musculoskeletal system disorder
Myasthenia gravis	EFO_0004991	A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459);Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.	acquired myasthenia;autoimmune myasthenia gravis;myasthenia gravis
Mycobacterial infectious disease	MONDO_0020590	Infection due to organisms from the genus Mycobacteria.	mycobacterial infection;mycobacteriosis;mycobacterium infection
Mycobacterium avium complex disease	EFO_0007386	A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.;An infection that is caused by Mycobacterium avium.	Infection due to Mycobacterium intracellulare;Infection due to Mycobacterium intracellulare (disorder);MAC disease;Mycobacterium Avium Infection;Mycobacterium avium Complex;Mycobacterium avium complex caused disease or disorder;Mycobacterium avium complex disease or disorder;Mycobacterium avium complex infectious disease;Mycobacterium avium infection;Mycobacterium avium-intracellulare Infection;infection due to Mycobacterium intracellulare;mycobacterium avium complex disease
Mycobacterium infection	EFO_0009429	Infections with bacteria of the genus Mycobacterium.	mycobacterial infection
Mycosis fungoides and variants	MONDO_0015821	Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.	N/A
Mycosis fungoides	EFO_1001051	A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected.;Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.	CTCL/ mycosis fungoides;MF;Mycosis Fungoides;Mycosis fungoides;Mycosis fungoides (disorder);Mycosis fungoides (morphologic abnormality);Mycosis fungoides NOS (disorder);Mycosis fungoides NOS (morphologic abnormality);Mycosis fungoides of unspecified site (disorder);Mycosis fungoides, unspecified site, extranodal and solid organ sites;cutaneous T-cell lymphoma/mycosis fungoides;mycosis fungoides;mycosis fungoides (morphologic abnormality);mycosis fungoides NOS (morphologic abnormality);mycosis fungoides lymphoma;mycosis fungoides of unspecified site;mycosis fungoides, Alibert-Bazin type;mycosis fungoides, unspecified site, extranodal and solid organ sites
Myelodysplastic/myeloproliferative disease	MONDO_0020077	Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.	N/A
Myelodysplastic/myeloproliferative neoplasm	EFO_1000388	A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.	MDS-MPD;MDS/MPD;MDS/MPN;MPD-MDS;MPD/MDS;myelodysplastic myeloproliferative cancer;myelodysplastic myeloproliferative disease;myelodysplastic/myeloproliferative Neoplasm;myelodysplastic/myeloproliferative disease;myelodysplastic/myeloproliferative diseases;myelodysplastic/myeloproliferative disorder;myelodysplastic/myeloproliferative disorders;myelodysplastic/myeloproliferative neoplasms;myeloproliferative/myelodysplastic disorders;myeloproliferative/myelodysplastic syndromes
Myelodysplastic syndrome	EFO_0000198	A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines.  The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia.  It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy.  (WHO, 2001);A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001);Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells.	Dysmyelopoietic Syndrome;Hematopoeitic - Myelodysplastic Syndrome (MDS);MDS;Myelodysplasia;Myelodysplastic Neoplasm;Myelodysplastic Syndrome/Neoplasm;Myelodysplastic Syndromes;Oligoblastic Leukemia;Preleukemia;Smoldering Leukemia;dysmyelopoietic syndrome;hematopoeitic - myelodysplastic syndrome (MDS);myelodysplasia;myelodysplastic neoplasm;myelodysplastic syndrome;myelodysplastic syndrome/neoplasm;myelodysplastic syndromes;oligoblastic leukemia;preleukemia;smoldering leukemia
Myelofibrosis	HP_0011974	Replacement of bone marrow by fibrous tissue.	N/A
Myeloid hemopathy	MONDO_0015756	N/A	N/A
Myeloid leukemia	HP_0012324	A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.	N/A
Myeloid leukemia	MONDO_0004643	A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.	leukemia granulocytic;leukemia myelogenous;leukemia myeloid;leukemia, granulocytic, malignant;myelocytic leukemia;myelogenous leukemia;myeloid granulocytic leukemia;myeloid leukemia;non-lymphoblastic leukemia;non-lymphocytic leukemia
Myeloid neoplasm	EFO_0002427	A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell.;Proliferation of myeloid cells originating from a primitive stem cell.	myeloid malignancy;myeloid neoplasm;myeloid tumor;myeloma
Myeloid white cell count	EFO_0007988	The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter.	myeloid leukocyte count
Myeloperoxidase measurement	EFO_0005243	quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease	N/A
Myeloproliferative disorder	EFO_0004251	Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.	Myeloproliferative Neoplasm;myeloproliferative disorders;myeloproliferative neoplasms
Myocardial disorder	MONDO_0024643	A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.	disease of myocardium;disease or disorder of myocardium;disorder of myocardium;myocardial disease;myocardial disorder;myocardium disease;myocardium disease or disorder
Myocardial fibrosis	HP_0001685	Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.	N/A
Myocardial infarction	EFO_0000612	Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.;NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).	Attack - heart;Cardiac infarction;Cardiac infarction, NOS;Heart attack, NOS;INFARCTION (MI), MYOCARDIAL;Infarct, Myocardial;Infarction of heart;Infarction of heart, NOS;Infarction, Myocardial;Infarctions, Myocardial;Infarcts, Myocardial;MI;MI - Myocardial infarction;MI, MYOCARDIAL INFARCTION;MI, myocardial infarction;MYOCARDIAL INFARCTION, (MI);Myocardial Infarct;Myocardial Infarctions;Myocardial Infarcts;Myocardial infarction (disorder);Myocardial infarction NOS;Myocardial infarction, NOS;heart attack;infarction (MI), myocardial;myocardial infarct;myocardial infarction;myocardial infarction (disease);myocardial infarction, (MI)
Myocardial ischemia	EFO_1001375	A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION).;A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).	IHD;ischemic disease of myocardium;ischemic heart disease;myocardial ischemia;myocardium ischemic disease
Myocarditis	EFO_0009609	Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus , Wegener's granulomatosis , giant cell arteritis and Takayasu's arteritis . Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.;Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus , Wegener's granulomatosis , giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and, rarely, a heart transplant may be needed if the heart muscle becomes weak. [ https://rarediseases.info.nih.gov/diseases/7137/myocarditis ]	inflammation of myocardium;myocardial inflammation;myocardial inflammation (finding);myocarditis;myocardium inflammation
Myoma	DOID_2691	N/A	benign neoplasm of the Muscle
Myomatous neoplasm	MONDO_0021545	A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.	muscle neoplasm;muscle tumor;myomatous neoplasm;myomatous tumor;neoplasm of muscle;neoplasm of the muscle;tumor of muscle;tumor of the muscle
Myopathy	EFO_0004145	A muscular disease in which the muscle fibers do not function resulting in muscular weakness.;a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.	myopathy
Myopathy with eye involvement	Orphanet_98689	N/A	N/A
Myopia (disease)	MONDO_0001384	The condition in which the individual does not see far distances clearly.	myopia;near vision;near-sightedness;short-sightedness
Myopia	DOID_11830	A refractive error characterized by the inability to see farther objects clearly.	near vision;near-sightedness;short-sightedness
Myopia	HP_0000545	A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.	Myopias;Nearsightedness;Nearsightednesses
Myositis	EFO_0000783	An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.;An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.;Inflammation of a muscle or muscle tissue.	Focal Myositides;Focal Myositis;IDIOPATHIC INFLAMM MYOPATHIES;INFECT MYOSITIS;INFLAMM MUSCLE DIS;INFLAMM MYOPATHIES IDIOPATHIC;INFLAMM MYOPATHY;Idiopathic Inflammatory Myopathies;Idiopathic Inflammatory Myopathy;Infectious Myositides;Infectious Myositis;Inflammatory Muscle Disease;Inflammatory Muscle Diseases;Inflammatory Myopathies;Inflammatory Myopathies, Idiopathic;Inflammatory Myopathy, Idiopathic;Inflammatory disorder of muscle;Inflammatory disorder of muscle (disorder);Inflammatory myopathy;MUSCLE DIS INFLAMM;MUSCLE/LIGAMENT DIS NOS;MYALGIA AND MYOSITIS NOS;MYOPATHIES IDIOPATHIC INFLAMM;MYOPATHY INFLAMM;MYOSITIS INFECT;Muscle Disease, Inflammatory;Muscle Diseases, Inflammatory;Muscle inflammation;Mylagia and myositis, unspecified;Myopathies, Idiopathic Inflammatory;Myopathies, Inflammatory;Myopathy, Idiopathic Inflammatory;Myopathy, Inflammatory;Myositides;Myositides, Focal;Myositides, Infectious;Myositides, Proliferative;Myositis (disorder);Myositis NOS;Myositis unspecified;Myositis unspecified (disorder);Myositis, Focal;Myositis, Infectious;Myositis, NOS;Myositis, Proliferative;Proliferative Myositides;Proliferative Myositis;Unspecified disorder of muscle, ligament, and fascia;inflammation of muscle tissue;inflammatory disorder of muscle;inflammatory disorder of muscle (disorder);muscle tissue inflammation;myositis
Myotonic dystrophy	Orphanet_206647	N/A	N/A
Myotonic syndrome	Orphanet_206970	N/A	N/A
Myxoid liposarcoma	EFO_0000613	A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.;A liposarcoma containing myxomatous tissue. (Dorland, 27th ed);The most common type of liposarcoma.  It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.	Liposarcoma, Myxoid;Liposarcomas, Myxoid;Myxoid Liposarcomas;Myxoid liposarcoma (disorder);Myxoid liposarcoma (morphologic abnormality);Myxoliposarcoma;myxoid liposarcoma;myxoid liposarcoma (morphologic abnormality);myxoid/round cell liposarcoma
Myxoid/round cell liposarcoma	MONDO_0020561	Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.	MRCLS
N/a	GO_0006954	N/A	N/A
N/a	GO_0007608	A neurological process comprising the series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors.	N/A
N/a	GO_0070527	The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS.	N/A
Nail anomaly	MONDO_0019283	A epidermal appendage anomaly that involves the nail.	epidermal appendage anomaly of nail;nail epidermal appendage anomaly
Nail disease	MONDO_0002884	A disease involving the nail.	disease of nail;disease or disorder of nail;disorder of nail;nail disease;nail disease or disorder
Narcolepsy	DOID_8986	A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.	Narcolepsy, without cataplexy;paroxysmal sleep
Narcolepsy	MONDO_0021107	A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.	narcolepsy;paroxysmal sleep
Narcolepsy with cataplexy	EFO_0000614	A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7);Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).	GC)lineau disease;Gelineau Syndrome;Gelineau's Syndrome;Gelineau's Syndromes;Gelineaus Syndrome;Gélineau disease;Narcolepsy (disorder);Narcolepsy NOS;Narcoleptic Syndrome;Narcoleptic Syndromes;Paroxysmal Sleep;Sleep, Paroxysmal;Syndrome, Gelineau;Syndrome, Gelineau's;Syndrome, Narcoleptic;Syndromes, Gelineau's;Syndromes, Narcoleptic;narcolepsy;narcolepsy cataplexy;narcolepsy cataplexy syndrome;narcolepsy with cataplexy;narcolepsy-cataplexy;narcolepsy-cataplexy syndrome;syndrome, narcolepsy cataplexy
Nasal cavity and paranasal sinus carcinoma	MONDO_0056819	A carcinoma arising from the nasal cavity or paranasal sinuses.	nasal cavity and paranasal sinus cancer;nasal cavity and paranasal sinus carcinoma;paranasal sinus and nasal cavity cancer;sinonasal carcinoma
Nasal cavity and paranasal sinus neoplasm	MONDO_0056820	A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	nasal cavity and paranasal sinus neoplasm
Nasal cavity disease	MONDO_0002232	A disease involving the nasal cavity.	disease of nasal cavity;disease or disorder of nasal cavity;disorder of nasal cavity;nasal cavity disease;nasal cavity disease or disorder;nasal cavity disorder
Nasal cavity inverting papilloma	DOID_4633	N/A	Inverting papilloma of the nasal cavity
Nasal polyposis	HP_0100582	Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.	Nasal polyps;Polys of nose
Nasopharyngeal disease	MONDO_0004821	A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.	disease of nasopharynx;disease or disorder of nasopharynx;disorder of nasopharynx;nasopharyngeal disorder;nasopharynx disease;nasopharynx disease or disorder
Nasopharyngeal neoplasm	EFO_0004252	A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.;Tumors or cancer of the NASOPHARYNX.	nasopharyngeal cancer;nasopharyngeal carcinoma;nasopharyngeal neoplasm;nasopharyngeal neoplasms;nasopharyngeal tumor;nasopharynx neoplasm;nasopharynx neoplasm (disease);nasopharynx tumor;neoplasm of nasopharynx;neoplasm of the nasopharynx;tumor of nasopharynx;tumor of the nasopharynx
Nasopharyngeal squamous cell carcinoma	EFO_1000058	A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.;A squamous cell carcinoma that arises from the nasopharynx	nasopharyngeal carcinoma;nasopharyngeal squamous cell carcinoma
Necrotizing enterocolitis	EFO_0003928	ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.;Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.	Enterocolitis, Necrotizing;NEC;necrotizing enterocolitis
Nemaline myopathy	Orphanet_607	Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.	NEM;NM;Nemaline rod myopathy
Neonatal diabetes mellitus	Orphanet_224	Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.	NDM
Neonatal hypoxic and ischemic brain injury	Orphanet_137577	N/A	HIE;Hypoxic and ischemic brain injury in the newborn;Hypoxic-ischemic encephalopathy;Perinatal asphyxia;Perinatal hypoxia
Neonatal/infantile epilepsy syndrome	MONDO_0100022	An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.	N/A
Neonatal systemic lupus erthematosus	EFO_0004537	A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.	Neonatal Lupus Erythematosus;neonatal lupus;neonatal lupus syndrome;neonatal systemic lupus erthematosus
Neoplasm	EFO_0000616	A benign or malignant tissue growth resulting from uncontrolled cell proliferation.  Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia.  Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.;A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.	NEOPL;NEOPLASMS BENIGN, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS);Neoplasia;Neoplasms;Neoplastic Growth;Tumor;Tumors;disease of cellular proliferation;neoplasia;neoplasm;neoplasm (disease);neoplastic disease;neoplastic growth;tumor;tumor disease;tumour;tumours
Neoplasm of esophagus	MONDO_0021355	A neoplasm (disease) that involves the esophagus.	esophageal neoplasm;esophageal neoplasms, benign and malignant;esophageal tumor;esophageal tumors;esophagus neoplasm;esophagus neoplasm (disease);esophagus tumor;neoplasm of esophagus;neoplasm of the esophagus;tumor of esophagus;tumor of the esophagus
Neoplasm of hypopharynx	MONDO_0021358	A neoplasm (disease) that involves the hypopharynx.	hypopharyngeal neoplasm;hypopharyngeal neoplasms;hypopharyngeal tumor;hypopharynx neoplasm;hypopharynx neoplasm (disease);hypopharynx tumor;neoplasm of hypopharynx;neoplasm of the hypopharynx;tumor of hypopharynx;tumor of the hypopharynx
Neoplasm of immature b and t cells	EFO_0002425	a neoplasm arising from immature B and T cells	neoplasm of immature B and T cells
Neoplasm of jaw	MONDO_0021580	A neoplasm (disease) that involves the jaw skeleton.	jaw skeleton neoplasm;jaw skeleton neoplasm (disease);jaw skeleton tumor;neoplasm of jaw skeleton;tumor of jaw skeleton
Neoplasm of major salivary gland	MONDO_0021368	A neoplasm (disease) that involves the major salivary gland.	major salivary gland neoplasm;major salivary gland neoplasm (disease);major salivary gland tumor;neoplasm of major salivary gland;neoplasm of the Major salivary gland;tumor of Major salivary gland;tumor of major salivary gland;tumor of the Major salivary gland
Neoplasm of mature b-cells	EFO_0000096	A low-grade malignant lymphoma of follicular pattern in which there is no clear preponderance of one cell type (small or large) over another. The large cells, cleaved or noncleaved, are often 2-3 times larger in diameter than normal lymphocytes.;A low-grade malignant lymphoma of predominantly follicular pattern. Follicles are of relatively uniform size and shape and the cells are usually somewhat larger than normal lymphocytes. Nuclei are irregular with prominent indentations and cytoplasm can rarely be identified. Cells exhibiting these characteristics are often called centrocytes.;A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).;Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.;Malignant lymphoma in which the majority of neoplastic cells within the follicles are large cleaved or noncleaved cells. The degree to which the follicular center cells retain their ability to form follicles varies with the state of B-cell transformation.;The most common type of non-Hodgkin lymphoma.  It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003	B-Cell Non Hodgkin's Lymphoma;B-Cell Non-Hodgkin Lymphoma;B-Cell Non-Hodgkin's Lymphoma;B-cell lymphoma;BRILL SYMMERS DIS;Brill Symmers Disease;Brill-Symmers Disease;Disease, Brill-Symmers;FOLLIC LARGE LYMPHOMA;FOLLIC LYMPHOMA;FOLLIC LYMPHOMA GIANT;FOLLIC MIXED LYMPHOMA;Follicular Large Cell Lymphoma;Follicular Large-Cell Lymphoma;Follicular Large-Cell Lymphomas;Follicular Lymphoma;Follicular Lymphoma, Giant;Follicular Lymphoma, Grade 1;Follicular Lymphoma, Grade 2;Follicular Lymphoma, Grade 3;Follicular Lymphomas;Follicular Lymphomas, Giant;Follicular Mixed Cell Lymphoma;Follicular Mixed-Cell Lymphoma;Follicular Mixed-Cell Lymphomas;GIANT FOLLIC LYMPHOMA;Giant Follicular Lymphoma;Giant Follicular Lymphomas;Histiocytic Lymphoma, Nodular;Histiocytic Lymphomas, Nodular;LARGE LYMPHOMA FOLLIC;LYMPHOCYTIC LYMPHOMA NODULAR POORLY DIFFER;LYMPHOMA FOLLIC;LYMPHOMA FOLLIC LARGE;LYMPHOMA FOLLIC MIXED;LYMPHOMA FOLLIC MIXED LYMPHOCYTIC HISTIOCYTIC;LYMPHOMA FOLLIC MIXED SMALL LARGE LYMPHOID;LYMPHOMA FOLLIC SMALL LARGE CLEAVED;LYMPHOMA GIANT FOLLIC;LYMPHOMA LARGE FOLLIC;LYMPHOMA LYMPHOCYTIC NODULAR POORLY DIFFER;LYMPHOMA MIXED FOLLIC;LYMPHOMA NODULAR LARGE FOLLIC CENTER;LYMPHOMA NODULAR MIXED SMALL LARGE;LYMPHOMA SMALL CLEAVED CELL FOLLIC;LYMPHOMA SMALL CLEAVED FOLLIC;LYMPHOMA SMALL FOLLIC CENTER;LYMPHOMA SMALL LYMPHOID FOLLIC;Large Cell Lymphoma, Follicular;Large Lymphoid Lymphoma, Nodular;Large-Cell Lymphoma, Follicular;Large-Cell Lymphomas, Follicular;Lymphocytic Lymphoma, Nodular, Poorly Differentiated;Lymphocytic Lymphoma, Nodular, Poorly-Differentiated;Lymphoma, Follicular;Lymphoma, Follicular Large Cell;Lymphoma, Follicular Large-Cell;Lymphoma, Follicular Mixed-Cell;Lymphoma, Follicular, Grade 1;Lymphoma, Follicular, Grade 2;Lymphoma, Follicular, Grade 3;Lymphoma, Follicular, Mixed Cell;Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic;Lymphoma, Follicular, Mixed Small and Large Lymphoid;Lymphoma, Follicular, Small and Large Cleaved Cell;Lymphoma, Follicular, Small and Large Cleaved-Cell;Lymphoma, Giant Follicular;Lymphoma, Histiocytic, Nodular;Lymphoma, Large Cell, Follicular;Lymphoma, Large Lymphoid, Nodular;Lymphoma, Large-Cell, Follicular;Lymphoma, Lymphocytic, Nodular, Poorly Differentiated;Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated;Lymphoma, Mixed-Cell, Follicular;Lymphoma, Nodular;Lymphoma, Nodular Histiocytic;Lymphoma, Nodular, Large Follicular Center Cell;Lymphoma, Nodular, Large Follicular Center-Cell;Lymphoma, Nodular, Mixed Lymphocytic Histiocytic;Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic;Lymphoma, Nodular, Mixed Small and Large Cell;Lymphoma, Small Cleaved Cell, Follicular;Lymphoma, Small Cleaved-Cell, Follicular;Lymphoma, Small Follicular Center Cell;Lymphoma, Small Follicular Center-Cell;Lymphoma, Small Lymphoid, Follicular;Lymphomas Non-Hodgkin's B-Cell;Lymphomas, Follicular;Lymphomas, Follicular Large-Cell;Lymphomas, Follicular Mixed-Cell;Lymphomas, Giant Follicular;Lymphomas, Nodular;Lymphomas, Nodular Histiocytic;MIXED LYMPHOMA FOLLIC;Mixed Cell Lymphoma, Follicular;Mixed-Cell Lymphoma, Follicular;Mixed-Cell Lymphomas, Follicular;NODULAR LARGE FOLLIC CENTER LYMPHOMA;Nodular Histiocytic Lymphoma;Nodular Histiocytic Lymphomas;Nodular Large Follicular Center Cell Lymphoma;Nodular Large Follicular Center-Cell Lymphoma;Nodular Lymphoma;Nodular Lymphomas;Non-Hodgkin's B-Cell Lymphoma;Non-Hodgkin's Lymphoma B-Cell;SMALL CLEAVED LYMPHOMA FOLLIC;SMALL FOLLIC CENTER LYMPHOMA;Small Cleaved Cell Lymphoma, Follicular;Small Cleaved-Cell Lymphoma, Follicular;Small Follicular Center Cell Lymphoma;Small Follicular Center-Cell Lymphoma;mature B-cell lymphocytic neoplasm;mature B-cell neoplasm;neoplasm of mature B-cells;peripheral B-cell neoplasm
Neoplasm of mature t-cells or nk-cells	EFO_0002426	A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.;a neoplasm arising from mature T-cells or natural killer cells	Mature T-Cell and NK-Cell Neoplasm;mature T and NK neoplasms;mature T-cell and NK-cell neoplasm;mature T-cell neoplasm;neoplasm of mature T-cells or NK-cells;peripheral T-cell or NK-cell neoplasm
Neoplasm of neck	MONDO_0021351	A neoplasm (disease) that involves the neck.	neck neoplasm;neck neoplasm (disease);neck neoplasms (Including All pharyngeal Related neoplasms);neck tumor;neoplasm of neck;neoplasm of the neck;tumor of neck;tumor of the neck
Neoplasm of oropharynx	MONDO_0021364	A neoplasm (disease) that involves the oropharynx.	neoplasm of oropharynx;neoplasm of the oropharynx;oropharyngeal neoplasm;oropharyngeal neoplasms;oropharyngeal tumor;oropharynx neoplasm;oropharynx neoplasm (disease);oropharynx tumor;tumor of oropharynx;tumor of the oropharynx
Neoplasm of testis	MONDO_0021348	A neoplasm (disease) that involves the testis.	neoplasm of testis;neoplasm of the testis;testicular neoplasm;testicular tumor;testis neoplasm;testis neoplasm (disease);testis tumor;tumor of testis;tumor of the testis
Neoplasm of thorax	MONDO_0021350	A neoplasm (disease) that involves the thoracic segment of trunk.	neoplasm of the thorax;neoplasm of thoracic segment of trunk;thoracic neoplasm;thoracic segment of trunk neoplasm;thoracic segment of trunk neoplasm (disease);thoracic segment of trunk tumor;thoracic tumor;tumor of the thorax;tumor of thoracic segment of trunk;tumor of thorax
Neoplastic disease or syndrome	MONDO_0023370	Either an isolated neoplasm or a syndrome with neoplasm as a major feature.	N/A
Neoplastic syndrome	MONDO_0021058	A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.	cancer-related syndrome;neoplastic syndrome;tumor syndrome
Nephritis	EFO_1002050	Inflammation of renal tissue.;Inflammation of renal tissue. [ NCIT:P378 ]	inflammation of kidney;kidney inflammation;nephritis
Nephroblastoma	Orphanet_654	Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.	Renal embryonic tumor;Wilms tumor
Nephrolithiasis	EFO_0004253	Formation of stones in the KIDNEY.;The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.	Kidney stones;Renal calculi;Renal stones;Stone - kidney/ureter;calculus of kidney and ureter;kidney Stone;kidney stones;nephrolithiasis;nephrolithiasis, calcium oxalate;renal calculi;urolithiasis, calcium oxalate
Nephropathy secondary to a storage or other metabolic disease	Orphanet_93593	N/A	nephropathy secondary to a storage or other metabolic disease
Nephrosclerosis	EFO_1000041	Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.;Hardening of the walls of the small arteries and arterioles (small arteries that convey blood from arteries to the even smaller capillaries) of the kidney. This condition is caused by hypertension (high blood pressure)	Renal sclerosis, unspecified;nephrosclerosis;renal sclerosis
Nephrosis	MONDO_0002331	Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.	Nephroses
Nephrotic syndrome	EFO_0004255	A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.;A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.	Finnish congenital nephrosis;nephrotic syndrome;nephrotic syndrome (acquired);nephrotic syndromes;syndrome, nephrotic;syndromes, nephrotic
Nerve sheath neoplasm	MONDO_0002547	A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.	neoplasm of nerve sheath;neoplasm of the nerve sheath;nerve sheath neoplasm;nerve sheath tumor;nerve sheath tumour;peripheral nerve sheath neoplasm;tumor of nerve sheath
Nervous system anomaly with eye involvement	Orphanet_98692	N/A	nervous system anomaly with eye involvement
Nervous system benign neoplasm	MONDO_0000648	Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).	benign neoplasm of nervous system;benign neoplasm of the nervous system;benign nervous system neoplasm;benign nervous system tumor;benign tumor of nervous system;benign tumor of the nervous system;nervous system benign neoplasm;nervous system neoplasm, benign
Nervous system cancer	EFO_0007392	A primary or metastatic malignant neoplasm involving the nervous system.;An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system.	Neoplasms, Nerve Tissue;cancer of nervous system;malignant neoplasm of nervous system;malignant neoplasm of the nervous system;malignant nervous system neoplasm;malignant nervous system tumor;malignant tumor of nervous system;malignant tumor of the nervous system;neoplasm of nervous system;neoplasm of nervous system (disorder);nervous system cancer;nervous system neoplasm;nervous system neoplasms, malignant;neural neoplasm;neural tumor;tumor of the nervous system
Nervous system disease	EFO_0000618	A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.;a general class of medical conditions affecting the nervous system.	disease of nervous system;disease or disorder of nervous system;disorder of nervous system;nervous system disease;nervous system disease or disorder;nervous system disorder;neurologic disease;neurologic disorder;neurological disease;neurological disorder;neurological problem
Nervous system injury	EFO_0009490	Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.;Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. [ MESH ]	injury of nervous system;nerve injury;nerve trauma;nervous system injury;neurological injury;neurological trauma
Nervous system neoplasm	MONDO_0021248	A neoplasm (disease) that involves the nervous system.	neoplasm of nervous system;neoplasm of the nervous system;nervous system neoplasm (disease);nervous system neoplasms;nervous system tumor;nervous system tumour;tumor of nervous system;tumor of the nervous system
Neuralgia	EFO_0009430	A pain disorder characterize by pain in the distribution of a nerve or nerves;Intense painful sensation along a nerve or group of nerves. It is caused by irritation or trauma to a nerve or inflammation of a nerve.	neuralgia
Neural tube closure defect	Orphanet_268357	N/A	N/A
Neural tube defect	Orphanet_3388	N/A	N/A
Neuritic plaque measurement	EFO_0006798	quantification of  neuritic (senile) plaques in the brain, Senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] Degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. These deposits can also be a byproduct of senescence (ageing). However, large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] The plaques are variable in shape and size, but are on average 50 µm in size.[4] In Alzheimer's disease they are primarily composed of amyloid beta peptides.	senile plaque measurement
Neurobehavioral manifestations	EFO_0004364	Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information.	cognitive manifestations;cognitive symptoms;neurobehavioral signs and symptoms
Neuroblastic tumor	EFO_1000393	A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.	neuroblastic tumor
Neuroblastoma	EFO_0000621	A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).;A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51);A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.	(neuroblastoma NOS) or (sympathicoblastoma);Central neuroblastoma;NB - Neuroblastoma;Neuroblastoma, NOS;Neuroblastomas;Sympathicoblastoma;[M]Neuroblastoma NOS;[M]Neuroblastoma NOS (morphologic abnormality);neural Crest tumor, malignant;neuroblastoma;neuroblastoma (Schwannian Stroma-Poor);neuroblastoma (Schwannian Stroma-poor);neuroblastoma (morphologic abnormality);neuroblastoma NOS (morphologic abnormality);neuroblastoma, malignant
Neurocristopathy	MONDO_0021635	That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.	disorder of neural crest cell development;disorder of neural crest development;neural crest cell development disease
Neurocutaneous syndrome	MONDO_0042983	A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.	neurocutaneous syndrome
Neurocutaneous syndrome with epilepsy	Orphanet_166466	N/A	neurocutaneous syndrome with epilepsy
Neurodegeneration	HP_0002180	Progressive loss of neural cells and tissue.	N/A
Neurodegenerative disease	EFO_0005772	A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.	Neurodegenerative Diseases;brain degeneration;central nervous system degenerative disorder;central nervous system neurodegenerative disorder;degenerative disorder of central nervous system;neurodegenerative disease
Neurodegenerative disease with chorea	Orphanet_306719	N/A	neurodegenerative disease with chorea
Neurodegenerative disease with dementia	MONDO_0020136	N/A	N/A
Neuroendocrine carcinoma	MONDO_0002120	A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.	NEC;neuroendocrine cancer;neuroendocrine carcinoma
Neuroendocrine disease	MONDO_0100070	A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.	neuroendocrine system disease
Neuroendocrine neoplasm	EFO_1001901	A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma.;Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).	APUDoma;neuroendocrine neoplasm;neuroendocrine tumor
Neuroepithelial neoplasm	MONDO_0021193	A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.	neoplasm of neuroepithelial tissue;neoplasm of neuroepithelium;neoplasm of the neuroepithelium;neuroepithelial neoplasm;neuroepithelial neoplasms;neuroepithelial tissue neoplasm;neuroepithelial tissue tumor;neuroepithelial tumor;neuroepithelial tumors;tumor of neuroepithelial tissue;tumor of neuroepithelium;tumor of the neuroepithelium
Neurofibrillary tangles measurement	EFO_0006797	quantification of the presence and amount of neurofibrillary tangles, pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau	N/A
Neurofibroma	EFO_0000622	A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH).;A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016);An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.	Nerve sheath tumor;Nerve sheath tumor (morphologic abnormality);Nerve sheath tumour;Neurofibroma (WHO Grade I);Neurofibroma (disorder);Neurofibroma (morphologic abnormality);Neurofibroma NOS (morphologic abnormality);Neurofibroma, NOS;Neurofibroma, no ICD-O subtype;Neurofibroma, no ICD-O subtype (morphologic abnormality);Neurofibromas;[M]Neurofibroma NOS;[M]Neurofibroma NOS (morphologic abnormality);[M]Neurofibromas
Neurofibromatosis	EFO_0008514	A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.;Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs.	Neurofibromatosis 1;Recklinghausen's neurofibromatosis;acoustic neurofibromatosis;central Neurofibromatosis;neurofibromatosis;neurofibromatosis syndrome;neurofibromatosis type 1;neurofibromatosis type 2;neurofibromatosis type 4;neurofibromatosis type IV;peripheral Neurofibromatosis;type IV neurofibromatosis of riccardi;von Reklinghausen disease
Neurofibromatosis type 1	Orphanet_636	Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.	NF1;Von Recklinghausen disease
Neurofibromatosis type 2	Orphanet_637	Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.	Familial acoustic neurinoma;Familial acoustic neuroma;Familial vestibular schwannoma;NF2;acoustic neurofibromatosis;bilateral acoustic neurofibromatosis;central neurofibromatosis;neurofibromatosis 2;neurofibromatosis type 2
Neurogenic bladder	HP_0000011	An inability to completely empty the urinary bladder during the process of urination owing to a neurological condition.	N/A
Neuroimaging measurement	EFO_0004346	Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan	brain imaging
Neuroma	EFO_0009619	A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. [ NCI ]	N/A
Neurometabolic disease	Orphanet_68385	N/A	neurometabolic disease
Neuromuscular disease	EFO_1001902	A neuropathy that affect the nerves that control the voluntary muscles.;Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions	neuromuscular disease
Neuromuscular disease with dilated cardiomyopathy	Orphanet_217610	N/A	neuromuscular disease with dilated cardiomyopathy
Neuromyelitis optica	EFO_0004256	A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387).;Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.	Devic disease;Devic syndrome;Devic's disease;Devic's syndrome;neuromyelitis optica
Neuropathic pain	EFO_0005762	Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury.	N/A
Neuropathy	EFO_0004149	A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness.	N/A
Neuropsychological test	EFO_0003926	Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.	Aphasia Test;Aphasia Tests;Memory for Designs Test;NEUROPSYCHOL TEST;NEUROPSYCHOL TESTS;Neuropsychologic Test;Neuropsychologic Tests;Neuropsychological Tests;TEST NEUROPSYCHOL;TESTS NEUROPSYCHOL;Test, Aphasia;Test, Neuropsychologic;Test, Neuropsychological;Tests, Aphasia;Tests, Neuropsychologic;Tests, Neuropsychological;cognitive performance;cognitive performance test;cognitive test performance
Neurotic disorder	EFO_0004257	A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.;Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment.	neuroses;neurosis;neurotic disorder;neurotic disorders;neuroticism;psychoneurosis
Neuroticism measurement	EFO_0007660	Quantification of some aspect of neuroticism or neurotic behaviour, such as severity or frequency of neurotic behaviour. This is usually assessed via a standardised questionnaire.	N/A
Neurovascular disease	MONDO_0043218	A disorder of the nervous system related to a vascular etiology.	disease of nervous system vasculature;nervous system disorder of vasculature;neurovascular disorder;vasculature nervous system disorder
Neutropenia	MONDO_0001475	A decrease in the number of neutrophils found in the blood.	neutropenic disorder
Neutrophil collagenase measurement	EFO_0008248	quantification of the amount of neutrophil collagenase in a sample	N/A
Neutrophil count	EFO_0004833	Is a quantification of neutrophils in blood.;The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.	blood neutrophil count
Neutrophil percentage of granulocytes	EFO_0007994	A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all granulocytes in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage.	N/A
Neutrophil percentage of leukocytes	EFO_0007990	A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes.	blood neutrophil count to total leukocyte count ratio;neutrophil count as percentage of total white blood cells;neutrophil count to total WBC count ratio;neutrophil percentage;neutrophil percentage of white cells
Nevus	EFO_0000625	Nevus (or naevus, plural nevi or naevi, from nævus, Latin for "birthmark") is the medical term for sharply circumscribed[1] and chronic lesions of the skin or mucosa. These lesions are commonly named birthmarks or beauty marks. Nevi are benign by definition. However, 25% of malignant melanomas (a skin cancer) arise from pre-existing nevi.[2] Using the term nevus and nevi loosely, most physicians and dermatologists are actually referring to a variant of nevus called the "melanocytic nevus", which are composed of melanocytes. Histologically, melanocytic nevi are distinguished from lentigines (also a type of benign pigmented macule) by the presence of nests of melanocytes, which lentigines (plural form of lentigo) lack.	Mole NOS;Mole of skin;cutaneous nevi;cutaneous nevus;nevus (disorder);nevus, NOS;skin mole, NOS
N-glycan measurement	EFO_0004999	The quantification of N-glycans in a plasma sample.	N-glycan level
Nidovirales infectious disease	EFO_0007396	A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses.;Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.	Nidovirales Infections;Nidovirales caused disease or disorder;Nidovirales disease or disorder;Nidovirales infectious disease
Niemann-pick disease	EFO_1001380	A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.	NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK;NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM;Niemann-Pick disease;Niemann-Pick disease with cholesterol esterification block;Niemann-Pick disease, subacute juvenile form;SPHINGOMYELIN LIPIDOSIS;Sphingomyelinase Deficiency Disease;lipoid histiocytosis;lipoid histiocytosis (classical phosphatide);sphingomyelin lipidosis;sphingomyelin/cholesterol lipidosis;sphingomyelinase deficiency disease
Niemann-pick disease type c	Orphanet_646	NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.	Niemann-Pick disease type C
Nighttime rest measurement	EFO_0007827	quantification of some aspect of nighttime rest such as duration or quality	N/A
Nitric oxide exhalation measurement	EFO_0005536	Quantification of the fraction of nitric oxide in the total exhalation volume, used as a non-invasive biomarker of eosinophilic airway inflammation. Higher Feno values are associated with childhood asthma symptoms, exacerbations, physician-diagnosed asthma and atopy.	FENO;fraction of exhaled nitric oxide
Nkg2-d type ii integral membrane protein measurement	EFO_0008250	quantification of the amount of NKG2-D type II integral membrane protein in a sample	N/A
Noise-induced hearing loss	EFO_1001254	A condition in which a person loses the ability to hear due to exposure to high intensity sound.;Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.;temporary or permanent damage to hearing caused by prolonged exposure to loud noise, for example in an occupational setting. NIHL is the most common and significant occupational health issue, affecting 16% of the population worldwide	Hearing Loss, Noise-Induced;NIHL;noise induced hearing loss;noise-induced hearing loss
Non-acquired pituitary hormone deficiency	Orphanet_95488	N/A	non-acquired pituitary hormone deficiency
Non-acquired premature ovarian failure	Orphanet_95710	N/A	N/A
Non-alcoholic fatty liver disease	EFO_0003095	A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.	NAFLD - Nonalcoholic Fatty Liver Disease;Nonalcoholic Fatty Liver Disease;fatty liver disease, nonalcoholic;non-alcoholic fatty liver;non-alcoholic fatty liver disease
Non-alcoholic fatty liver	EFO_1001248	A benign form of fatty non-alcoholic fatty liver disease where the disease has not yet progressed to the inflammation of liver.	NAFL;non alcoholic fatty liver;nonalcoholic fatty liver
Non-alcoholic steatohepatitis	EFO_1001249	A common, often “silent” liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage.;Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.	NASH;nash - nonalcoholic Steatohepatitis;non alcoholic steatohepatitis;non-alcoholic steatohepatitis;nonalcoholic Steatohepatitis;nonalcoholic steatohepatitis
Non-dystrophic myopathy	Orphanet_206656	N/A	N/A
Non-familial hypertrophic cardiomyopathy	MONDO_0016330	An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.	acquired hypertrophic cardiomyopathy
Non-familial restrictive cardiomyopathy	EFO_1001473	a restrictive cardiomyopathy not inherited through genetics	non-familial restrictive cardiomyopathy
Non-functioning endocrine neoplasm	MONDO_0021119	A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.	endocrine-inactive tumor;non-functioning endocrine neoplasm;nonfunctional Endocrine neoplasm;nonfunctioning tumor
Non-functioning pituitary adenoma	EFO_0008516	A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.;Non-functioning pituitary adenoma is the most frequent type of pituitary bening tumors. Patients can also suffer hypopituitarism secondary to compression of the normal pituitary gland.	NFPA;functionless adenoma of pituitary;functionless adenoma of pituitary gland;functionless adenoma of the pituitary;functionless adenoma of the pituitary gland;functionless pituitary adenoma;functionless pituitary gland adenoma;non-functioning adenoma of pituitary;non-functioning adenoma of pituitary gland;non-functioning adenoma of the pituitary;non-functioning adenoma of the pituitary gland;non-functioning neoplasm of the pituitary;non-functioning pituitary adenoma;non-functioning pituitary gland adenoma;non-secretory adenoma of pituitary;non-secretory adenoma of pituitary gland;non-secretory adenoma of the pituitary;non-secretory adenoma of the pituitary gland;non-secretory pituitary adenoma;non-secretory pituitary gland adenoma;nonfunctional pituitary gland adenoma;silent pituitary gland adenoma
Non-functioning pituitary adenoma	Orphanet_91349	N/A	NFPA
Non-functioning pituitary gland neoplasm	MONDO_0003603	A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.	Nonfunctioning pituitary tumor;non-functioning endocrine neoplasm of pituitary gland;non-functioning neoplasm of pituitary;non-functioning neoplasm of pituitary gland;non-functioning neoplasm of the pituitary;non-functioning neoplasm of the pituitary gland;non-functioning pituitary gland neoplasm;non-functioning pituitary gland tumor;non-functioning pituitary neoplasm;non-functioning pituitary tumor;non-functioning tumor of pituitary;non-functioning tumor of pituitary gland;non-functioning tumor of the pituitary;non-functioning tumor of the pituitary gland;nonfunctional pituitary gland neoplasm;pituitary gland non-functioning endocrine neoplasm
Nongerminomatous germ cell tumor	MONDO_0021656	A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.	Nongerminomatous germ cell tumor;Nongerminomatous germ cell tumor Including central nervous system;non-dysgerminomatous germ cell tumor;non-germinomatous germ cell tumor;non-seminomatous germ cell tumor
Non-hodgkins lymphoma	EFO_0005952	 Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.;Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.	NHL;NHL, NOS;lymphoma, non-Hodgkin's;lymphoma, non-Hodgkins;lymphoma, nonhodgkin;lymphoma, nonhodgkins;non-Hodgkin lymphoma;non-Hodgkin's lymphoma;non-Hodgkin's lymphoma (NHL);non-Hodgkins lymphoma;nonhodgkin lymphoma;nonhodgkins lymphoma
Non-langerhans cell histiocytosis	MONDO_0015531	Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).	non-Langerhans-cell histiocytosis
Non-melanoma skin carcinoma	EFO_0009260	Any skin carcinoma that is not melanoma, with the most common types being basal cell carcinoma and squamous cell carcinoma	non-melanoma skin cancer;nonmelanoma skin cancer;nonmelanoma skin carcinoma
Non-neoplastic bile duct disorder	EFO_1000400	A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.	non-neoplastic bile duct disorder
Nonpapillary renal cell carcinoma	MONDO_0007763	N/A	CCRCC;clear cell renal cell adenocarcinoma;clear cell renal cell carcinoma
Non-small cell lung adenocarcinoma	EFO_0005288	Type of epithelial lung cancer arising from glandular origin.	Lung Adenocarcinoma
Non-small cell lung carcinoma	EFO_0003060	A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.;A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.	Carcinoma, Non Small Cell Lung;Carcinoma, Non-Small Cell Lung;Carcinoma, Non-Small-Cell Lung;Carcinomas, Non-Small-Cell Lung;Lung Carcinoma, Non-Small-Cell;Lung Carcinomas, Non-Small-Cell;NONSMALL CELL LUNG CARCINOMA;NSCLC;NSCLC - non-small cell lung cancer;Non Small Cell Lung Carcinoma;Non-Small Cell Lung Cancer;Non-Small Cell Lung Carcinoma;Non-Small-Cell Lung Carcinoma;Non-Small-Cell Lung Carcinomas;Non-small cell lung cancer (disorder);non-small cell cancer of lung;non-small cell cancer of the lung;non-small cell carcinoma of lung;non-small cell carcinoma of the lung;non-small cell lung cancer;non-small cell lung carcinoma;non-small cell lung carcinoma (disease)
Non-syndromic developmental defect of the eye	Orphanet_108985	N/A	N/A
Non-syndromic esophageal malformation	Orphanet_108959	N/A	N/A
Non-syndromic gastroduodenal malformation	Orphanet_108963	N/A	N/A
Non-syndromic intestinal malformation	Orphanet_108967	N/A	N/A
Non-syndromic limb malformation	Orphanet_109011	N/A	non-syndromic limb malformation;nonsyndromic limb malformation
Non-syndromic limb reduction defect	Orphanet_93457	N/A	Non-syndromic limb hypoplasia;non-syndromic limb hypoplasia;non-syndromic limb reduction defect;nonsyndromic limb reduction defect
Non-syndromic respiratory or mediastinal malformation	Orphanet_108993	N/A	N/A
Non-syndromic urogenital tract malformation	MONDO_0015619	A urogenital tract malformation that is not part of a larger syndrome.	isolated urogenital tract malformation;nonsyndromic urogenital tract malformation
Non-syndromic urogenital tract malformation of male	MONDO_0015933	A non-syndromic urogenital tract malformation that involves the male organism.	male organism non-syndromic urogenital tract malformation;non-syndromic urogenital tract malformation of male organism;nonsyndromic urogenital tract malformation of male
Non-syndromic visceral malformation	Orphanet_108971	N/A	non-syndromic visceral malformation;nonsyndromic visceral malformation
Noonan syndrome and noonan-related syndrome	Orphanet_98733	N/A	Noonan syndrome and Noonan-related syndrome
Nose disease	MONDO_0002436	A disease involving the nose.	disease of nose;disease or disorder of nose;disorder of nose;disorder of the nose;nasal disorder;nose disease;nose disease or disorder
Nose morphology measurement	EFO_0007843	quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile	N/A
Notochordal tumor	MONDO_0002597	A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.	cancer of notochord;malignant neoplasm of notochord;malignant notochord neoplasm;neoplasm of notochord;notochord cancer;notochord neoplasm;notochord tumor;notochordal neoplasm;notochordal tumor;tumor of notochord
Nut midline carcinoma	EFO_0005783	A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.;NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, which creates a chimeric gene that encodes the BRD-NUT fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called NUT-variant.	Midline carcinoma of children and Young adults with NUT rearrangement;NMC;NUT Midline carcinoma;NUT carcinoma;carcinoma with t(15;19)(q13;p13.1) translocation;nuclear protein in testis midline carcinoma;nut midline carcinoma
Nutritional disorder	EFO_0001069	Any condition related to a disturbance between proper intake and utilization of nourishment.	Disorder of nutrition;Malnutrition;NUTRITION DIS;NUTRITIONAL DIS;Nutrition Disorders;Nutrition disorder;Nutritional Disorders;Nutritional disease;Nutritional disease, NOS;Nutritional disorder (disorder);Nutritional disorder, NOS;nutrition disease;nutritional disorder
Nutritional or metabolic disease	MONDO_0024297	A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.	N/A
Obesity	EFO_0001073	A disorder involving an excessive amount of body fat.;A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).;An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.	Adiposis;Adiposity;Obese;Obese (finding);Obesity (disorder);Obesity NOS;Obesity [Ambiguous];Obesity, unspecified;Overweight and obesity;obesity;obesity disease;obesity disorder
Obsessive-compulsive disorder	EFO_0004242	A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.;An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.	Anancastic neurosis;OCD;obsessive compulsive disorder;obsessive-compulsive disorder
Obstructive sleep apnea	EFO_0003918	A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395);A disorder characterized by recurrent episodic disruptions of breathing during sleep. It is caused by the intermittent relaxation of pharyngeal muscles leading to the narrowing or complete blockage of the upper airway. This results in compensatory arousal from sleep to breathe again. An anatomically narrow airway from body habitus or enlarged pharyngeal structures may also predispose to obstruction. Clinical presentation usually includes snoring, daytime sleepiness, difficulty concentrating and fatigue. Clinical course may progress to chronic hypoxemia with cardiovascular and cerebrovascular sequelae.;Cessation of air flow during sleep due to upper airway obstruction.	Apnea, Obstructive Sleep;Apneas, Obstructive Sleep;Obstructive Sleep Apnea Syndrome;Obstructive Sleep Apneas;Sleep Apnea Syndrome, Obstructive;Sleep Apnea, Obstructive;Sleep Apneas, Obstructive;Syndrome, Obstructive Sleep Apnea;Syndrome, Sleep Apnea, Obstructive;Syndrome, Upper Airway Resistance, Sleep Apnea;Upper Airway Resistance Sleep Apnea Syndrome;obstructive sleep apnea;obstructive sleep apnea syndrome
Ocular cancer	MONDO_0002236	A benign or malignant neoplasm affecting the structures of the eye.	cancer of eye;cancer of eyeball of camera-type eye;cancer of the eye;eye cancer;eye neoplasm, malignant;eyeball of camera-type eye cancer;malignant eye neoplasm;malignant eye tumor;malignant eyeball of camera-type eye neoplasm;malignant neoplasm of eye;malignant neoplasm of eyeball of camera-type eye;malignant neoplasm of the eye;malignant ocular neoplasm;malignant ocular tumor;malignant tumor of eye;malignant tumor of the eye
Ocular melanoma	EFO_1000403	A melanoma that arises from the structures of the eye or ocular adnexa.	eye melanoma;eye melanoma (disease);eyeball of camera-type eye melanoma;eyeball of camera-type eye melanoma (disease);intraocular melanoma;melanoma (disease) of eyeball of camera-type eye;melanoma of eye;melanoma of the eye;ocular melanoma
Ocular motility disease	EFO_1001990	N/A	disorder of eye movements;eye movement disorder;ocular motility disease
Ocular vascular disease	EFO_0005753	A disorder that is caused by pathologic changes in the ocular vasculature.;a disease that occurs in the vasculature of the eye	disease of vasculature of eye;disease or disorder of vasculature of eye;disorder of the ocular vasculature;disorder of vasculature of eye;ocular vascular disease;ocular vascular disorder;vasculature of eye disease;vasculature of eye disease or disorder
Oculo-auriculo-vertebral spectrum	Orphanet_141132	N/A	OAV spectrum;Unilateral or bilateral and asymmetric otomandibular dysplasia;oculo-auriculo-vertebral spectrum;unilateral or bilateral and asymmetric otomandibular dysplasia
Oculomotor apraxia or related oculomotor disease	Orphanet_98688	N/A	oculomotor apraxia or related oculomotor disease
Oculomotor palsy	Orphanet_98685	Paralysis of the oculomotor nerve.	III nerve palsy;IIIrd nerve paralysis;cranial nerve palsy of oculomotor nerve;oculomotor nerve cranial nerve palsy;oculomotor nerve paralysis;oculomotor palsy;third cranial nerve paralysis
Odontogenesis	GO_0042476	The process of TOOTH formation. It is divided into several stages including: the dental lamina stage, the bud stage, the cap stage, and the bell stage. Odontogenesis includes the production of tooth enamel ( AMELOGENESIS), dentin ( DENTINOGENESIS), and dental cementum ( CEMENTOGENESIS).	primary tooth development;tooth development
Odontogenic cyst	EFO_1000406	A cyst in the jaw that arises from tissues of tooth development.;a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in the jaws, because the mandible and maxilla are the only bones with epithelial components. That odontogenic epithelium is critical in normal tooth development. However, epithelial rests may be the origin for the cyst lining later. Not all oral cysts are odontogenic cyst.	odontogenic cyst
Old-aged sensorineural hearing impairment	HP_0040113	N/A	Presbycusis
Oleic acid measurement	EFO_0006810	The determination of the amount of oleic acid present in a sample.	N/A
Oligoastrocytic tumor	MONDO_0016701	N/A	mixed oligodendroglial and astrocytic tumor
Oligoastrocytoma	EFO_0000630	A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO);A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)	Adult Oligodendroglioma;Adult Oligodendrogliomas;Childhood Oligodendroglioma;Childhood Oligodendrogliomas;MOA;Mixed Astrocytic-Oligodendroglial Neoplasm;Mixed Astrocytic-Oligodendroglial Tumor;Mixed Astrocytoma-Oligodendroglioma;Mixed Oligo-Astrocytoma;Mixed Oligodendroglioma Astrocytoma;Mixed Oligodendroglioma Ependymoma;Mixed Oligodendroglioma-Astrocytoma;Mixed Oligodendroglioma-Astrocytomas;Mixed Oligodendroglioma-Ependymoma;Mixed Oligodendroglioma-Ependymomas;OLIGODENDROGLIOMA WELL DIFFER;Oligodendroblastoma;Oligodendroblastomas;Oligodendroglioma, Adult;Oligodendroglioma, Childhood;Oligodendroglioma, Well Differentiated;Oligodendroglioma, Well-Differentiated;Oligodendroglioma-Astrocytoma, Mixed;Oligodendroglioma-Astrocytomas, Mixed;Oligodendroglioma-Ependymoma, Mixed;Oligodendroglioma-Ependymomas, Mixed;Oligodendrogliomas, Adult;Oligodendrogliomas, Childhood;Oligodendrogliomas, Well-Differentiated;WELL DIFFER OLIGODENDROGLIOMA;WHO Grade II Mixed Glioma;WHO grade II mixed glioma;Well Differentiated Oligodendroglioma;Well-Differentiated Oligodendroglioma;Well-Differentiated Oligodendrogliomas;glioma, mixed, benign;mixed astrocytic-oligodendroglial neoplasm;mixed astrocytic-oligodendroglial tumor;mixed astrocytoma-oligodendroglioma;mixed oligo-astrocytoma;mixed oligoastrocytoma;mixed oligodendroglioma-astrocytoma;oligoastrocytoma;oligoastroglioma
Oligodendroglial tumor	MONDO_0018744	Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).	oligodendroglial neoplasm;oligodendroglial tumor
Oligodendroglioma	EFO_0000632	A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).;A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655);A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor of adults, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance).  It generally recurs locally, with median post-operative survival times ranging from 3 to 5 years for patients with all histological grades. (Adapted from WHO.);A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm (&amp;apos;honeycomb&amp;apos; appearance). (Adapted from WHO.);A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO);A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres.  It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.);A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)	Adult Oligodendroglioma;Adult Oligodendrogliomas;Childhood Oligodendroglioma;Childhood Oligodendrogliomas;Mixed Oligodendroglioma Astrocytoma;Mixed Oligodendroglioma Ependymoma;Mixed Oligodendroglioma-Astrocytoma;Mixed Oligodendroglioma-Astrocytomas;Mixed Oligodendroglioma-Ependymoma;Mixed Oligodendroglioma-Ependymomas;OLIGODENDROGLIOMA WELL DIFFER;Oligodendroblastoma;Oligodendroblastomas;Oligodendroglioma (morphologic abnormality);Oligodendroglioma NOS (morphologic abnormality);Oligodendroglioma, Adult;Oligodendroglioma, Childhood;Oligodendroglioma, NOS;Oligodendroglioma, Well Differentiated;Oligodendroglioma, Well-Differentiated;Oligodendroglioma, no ICD-O subtype;Oligodendroglioma, no ICD-O subtype (morphologic abnormality);Oligodendroglioma-Astrocytoma, Mixed;Oligodendroglioma-Astrocytomas, Mixed;Oligodendroglioma-Ependymoma, Mixed;Oligodendroglioma-Ependymomas, Mixed;Oligodendrogliomas;Oligodendrogliomas, Adult;Oligodendrogliomas, Childhood;Oligodendrogliomas, Well-Differentiated;WELL DIFFER OLIGODENDROGLIOMA;WHO Grade II Oligodendroglial Neoplasm;WHO Grade II Oligodendroglial Tumor;WHO grade II oligodendroglial neoplasm;WHO grade II oligodendroglial tumor;Well Differentiated Oligodendroglial Tumor;Well Differentiated Oligodendroglioma;Well-Differentiated Oligodendroglioma;Well-Differentiated Oligodendrogliomas;[M]Oligodendroglioma NOS;[M]Oligodendroglioma NOS (morphologic abnormality);oligodendroglioma;well differentiated oligodendroglial tumor;well differentiated oligodendroglioma
Omega-6 polyunsaturated fatty acid measurement	EFO_0005680	The determination of the amount of omega-6 polyunsaturated fatty acids present in a sample.	N/A
Open-angle glaucoma	EFO_0004190	Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.;Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.	glaucoma (primary open-angle);glaucoma simplex;glaucoma, open-angle;open angle glaucoma;open-angle glaucoma;pigmentary glaucoma;wide-angle glaucoma
Opioid dependence	EFO_0005611	Disorders related or resulting from abuse or mis-use of opioids.;Strong dependence, both physiological and emotional, upon opioids, a class of drugs derived from opium or created to emulate opium	Opioid-Related Disorders;opiate abuse;opiate addiction;opiate dependence;opioid abuse;opioid dependence;opioid type dependence
Optic cup area measurement	EFO_0006940	Is a quantification of the area of the optic cup	N/A
Optic disc area measurement	EFO_0006937	Is a quantification of the area of the optic disc	N/A
Optic disc size measurement	EFO_0004832	Is a quantification of the optic disk size	N/A
Oral cavity cancer	EFO_0005570	A gastrointestinal system cancer that is located_in the oral cavity.;A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.	Malignant Oral Cavity Neoplasm;cancer of oral cavity;malignant mouth neoplasm;malignant mouth tumor;malignant neoplasm of floor of mouth;malignant neoplasm of mouth;malignant neoplasm of oral cavity;malignant neoplasm of the mouth;malignant oral cavity neoplasm;malignant oral cavity tumor;malignant tumor of anterior floor of mouth;malignant tumor of lateral floor of mouth;malignant tumor of mouth;malignant tumor of oral cavity;malignant tumor of the Floor of the Mouth;malignant tumor of the mouth;oral cavity cancer
Oral cavity carcinoma	MONDO_0044925	A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.	carcinoma of mouth;carcinoma of oral cavity;carcinoma of the oral cavity;mouth carcinoma;oral cavity cancer;oral cavity carcinoma
Oral cleft	HP_0000202	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.	Cleft of the mouth;Oral clefting
Oral leukoplakia	HP_0002745	A white patch on the oral mucosa that cannot be rubbed off.	leukokeratosis
Oral lichen planus	EFO_0008517	Oral lichen planus is a chronic inflammatory oral condition of unknown aetiology characterized by T-cell-mediated chronic immune response and abnormal epithelial keratinization cycle.	N/A
Oral squamous cell carcinoma	EFO_0000199	A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.;cancer occurring between the vermilion border of the lips and the junction of the hard and soft palates or the posterior one third of the tongue.	Mouth SCC;Mouth Squamous Cell Carcinoma;Oral Cavity SCC;Oral Cavity Squamous Cell Carcinoma;SCC of Mouth;SCC of Oral Cavity;SCC of the Mouth;SCC of the Oral Cavity;Squamous Cell Carcinoma of Mouth;Squamous Cell Carcinoma of Oral Cavity;Squamous Cell Carcinoma of the Mouth;Squamous Cell Carcinoma of the Oral Cavity;mouth scc;mouth squamous cell carcinoma;oral cavity scc;oral cavity squamous cell cancer;oral cavity squamous cell carcinoma;oral squamous carcinoma;scc of mouth;scc of oral cavity;scc of the mouth;scc of the oral cavity;squamous cell carcinoma of mouth;squamous cell carcinoma of oral cavity;squamous cell carcinoma of the mouth;squamous cell carcinoma of the oral cavity
Oral submucous fibrosis	EFO_1001818	Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.;a chronic, complex, premalignant ( 1% transformation risk ) lesion of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues).	OSF;OSMF;oral cavity submucous fibrosis;oral submucosal fibrosis;oral submucosal fibrosis, including of tongue;oral submucous fibrosis
Organic aciduria	Orphanet_289899	N/A	N/A
Orofacial clefting syndrome	Orphanet_139039	N/A	orofacial clefting syndrome
Orofacial cleft	MONDO_0000358	N/A	N/A
Oropharyngeal carcinoma	MONDO_0044926	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.	cancer of oropharynx;cancer of the oropharynx;carcinoma of oropharynx;carcinoma of the oropharynx;oropharyngeal cancer;oropharyngeal carcinoma;oropharyngeal throat cancer;oropharynx carcinoma
Oropharynx cancer	EFO_1001931	A pharynx cancer that is located_in the oropharynx.;A primary or metastatic malignant neoplasm that affects the oropharynx.	cancer of oropharynx;malignant Oropharyngeal tumor;malignant neoplasm of junctional region of oropharynx;malignant neoplasm of lateral wall of oropharynx;malignant neoplasm of oropharynx;malignant neoplasm of posterior wall of oropharynx;malignant neoplasm of the oropharynx;malignant oropharyngeal neoplasm;malignant oropharyngeal tumor;malignant oropharynx neoplasm;malignant tumor of oropharynx;malignant tumor of oropharynx (disorder);malignant tumor of posterior wall of oropharynx;malignant tumor of posterior wall of oropharynx (disorder);malignant tumor of the oropharynx;malignant tumour of mesopharynx;malignant tumour of mesopharynx (disorder);oropharyngeal cancer;oropharyngeal carcinoma;oropharynx cancer;primary malignant neoplasm of lateral wall of oropharynx
Orthomyxoviridae infectious disease	EFO_0007411	A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites.;Virus diseases caused by the orthomyxoviridae.	Orthomyxoviridae Infections;Orthomyxoviridae caused disease or disorder;Orthomyxoviridae disease;Orthomyxoviridae disease or disorder;Orthomyxoviridae infectious disease;disease due to Orthomyxoviridae (disorder);orthomyxoviridae infectious disease
Ossification of the posterior longitudinal ligament of the spine	EFO_0005895	A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.	OPLL;Ossification of Posterior Longitudinal Ligament;ossification of Posterior longitudinal ligament;ossification of the posterior longitudinal ligament of the spine
Osteoarthritis	EFO_0002506	A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.;A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.	Arthritides, Degenerative;Arthritis, Degenerative;Degenerative Arthritides;Degenerative Arthritis;OA;Osteoarthritides;Osteoarthroses;Osteoarthrosis;Osteoarthrosis Deformans;arthrosis;degenerative arthritis;degenerative joint disease;hypertrophic arthritis;osteoarthritis;osteoarthrosis;osteoarthrosis and allied disorder
Osteoarthritis, knee	EFO_0004616	Knee osteoarthritis is a degenerative disease of the knee joint;Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)	Knee Osteoarthritides;Knee Osteoarthritis;Knee, Osteoarthritis Of;Knees, Osteoarthritis Of;Osteoarthritides, Knee;Osteoarthritis Of Knee;Osteoarthritis Of Knees;osteoarthritis of the knee;osteoarthritis, knee
Osteochondrodysplasia	EFO_0005571	A bone development disease that results_in defective development of cartilage or bone.;A term referring to disorders characterized by abnormalities in the development of bones and cartilage.	Cartilage Development disorder;Congenital anomaly of cartilage;chondrodystrophy;congenital skeletal dysplasia;osteochondrodysplasia;osteochondrodysplasia syndrome;skeletal dysplasia
Osteochondrosis	EFO_0008575	A condition that is characterized by defective bone growth that affects the growth centers of bone.;A condition that is characterized by defective bone growth that affects the growth centers of bone. [ NCI ]	apophysitis;epiphyseal necrosis;epiphysitis;osteochondritis;osteochondritis juvenilis;osteochondrosis;osteochondrosis not specified as adult or juvenile, of unspecified site
Osteogenesis imperfecta	Orphanet_666	Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.	Brittle bone disease;Glass bone disease;Lobstein disease;OI;Osteopsathyrosis;Porak and Durante disease
Osteomyelitis	EFO_0003102	A bone inflammation disease that results_from infection located_in bone and located_in bone marrow.;An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.	Osteomyelitis of ankle and/or foot (disorder);Osteomyelitis of forearm (disorder);Osteomyelitis of hand (disorder);Osteomyelitis of lower leg (disorder);Osteomyelitis of multiple sites (disorder);Osteomyelitis of shoulder region (disorder);Osteomyelitis of upper arm (disorder);Unspecified infection of bone of shoulder region;Unspecified infection of bone, ankle and foot;Unspecified infection of bone, forearm;Unspecified infection of bone, hand;Unspecified infection of bone, lower leg;Unspecified infection of bone, upper arm;Unspecified osteomyelitis involving multiple sites;Unspecified osteomyelitis of multiple sites;Unspecified osteomyelitis of multiple sites (disorder);Unspecified osteomyelitis of the ankle and foot;Unspecified osteomyelitis of the ankle and foot (disorder);Unspecified osteomyelitis of the forearm (disorder);Unspecified osteomyelitis of the hand;Unspecified osteomyelitis of the hand (disorder);Unspecified osteomyelitis of the lower leg (disorder);Unspecified osteomyelitis of the shoulder region;Unspecified osteomyelitis of the shoulder region (disorder);Unspecified osteomyelitis of the upper arm (disorder);acute osteomyelitis;acute osteomyelitis involving ankle and foot;acute osteomyelitis involving hand;acute osteomyelitis involving lower leg;acute osteomyelitis involving multiple sites;acute osteomyelitis involving pelvic region and thigh;acute osteomyelitis involving shoulder region;acute osteomyelitis involving upper arm;acute osteomyelitis of ankle and/or foot (disorder);acute osteomyelitis of the ankle and foot;acute osteomyelitis of the ankle and foot (disorder);bone infection NOS, of ankle and foot (disorder);bone infection NOS, of multiple sites (disorder);bone infection NOS, of the forearm (disorder);bone infection NOS, of the hand (disorder);bone infection NOS, of the lower leg (disorder);bone infection NOS, of the shoulder region (disorder);bone infection NOS, of the upper arm (disorder);chronic osteomyelitis;chronic osteomyelitis involving ankle and foot;chronic osteomyelitis involving hand;chronic osteomyelitis involving lower leg;chronic osteomyelitis involving multiple sites;chronic osteomyelitis involving pelvic region and thigh;chronic osteomyelitis involving shoulder region;chronic osteomyelitis involving upper arm;chronic osteomyelitis of ankle and/or foot (disorder);chronic osteomyelitis of the ankle and foot;chronic osteomyelitis of the ankle and foot (disorder);osteomyelitis;osteomyelitis (disease);osteomyelitis of ankle and foot;osteomyelitis of forearm;osteomyelitis of hand;osteomyelitis of lower leg;osteomyelitis of multiple sites;osteomyelitis of shoulder region;osteomyelitis of upper arm
Osteonecrosis	EFO_0004259	A none disease characterized by death of bone tissue due to a lack of blood supply.;Death of a bone or part of a bone, either atraumatic or posttraumatic.	aseptic necrosis;aseptic necrosis of bone;avascular necrosis;avascular necrosis of bone;bone necrosis;ischemic bone disease;osteonecrosis
Osteonecrosis of genetic origin	Orphanet_399380	N/A	Bone necrosis of genetic origin
Osteopetrosis	Orphanet_2781	Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.	N/A
Osteoporosis	EFO_0003882	A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).;Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.	AGE RELAT OSTEOPOROSIS;Age Related Osteoporosis;Age-Related Bone Loss;Age-Related Bone Losses;Age-Related Osteoporoses;Age-Related Osteoporosis;BONE LOSS AGE RELAT;Bone Loss, Age Related;Bone Loss, Age-Related;Bone Losses, Age-Related;OSTEOPOROSIS AGE RELAT;Osteoporoses;Osteoporoses, Age-Related;Osteoporoses, Senile;Osteoporosis, Age Related;Osteoporosis, Age-Related;Osteoporosis, Post Traumatic;Osteoporosis, Post-Traumatic;Osteoporosis, Senile;Post-Traumatic Osteoporoses;Post-Traumatic Osteoporosis;Senile Osteoporoses;Senile Osteoporosis;osteoporosis
Osteosarcoma	EFO_0000637	A malignant mesenchymal tumor arising from the bone.;A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed);A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.;A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults.  It usually involves bones and less frequently extraosseous sites.  It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).  Pain with or without a palpable mass is the most frequent clinical symptom.  It may spread to other anatomic sites, particularly the lungs.	Bone Sarcoma;Osseous Sarcoma;Osteoblastic osteosarcoma;Osteoblastic sarcoma;Osteochondrosarcoma;Osteogenic Sarcoma;Osteogenic Sarcomas;Osteogenic sarcoma, NOS;Osteosarcoma - disorder;Osteosarcoma Tumor;Osteosarcoma Tumors;Osteosarcoma of bone;Osteosarcoma of bone (disorder);Osteosarcoma, NOS;Osteosarcoma, no ICD-O subtype;Osteosarcoma, no ICD-O subtype (morphologic abnormality);Osteosarcomas;Sarcoma of Bone;Sarcoma of the Bone;Sarcoma, Osteogenic;Sarcomas, Osteogenic;Skeletal Sarcoma;Tumor, Osteosarcoma;Tumors, Osteosarcoma;[M]Osteosarcoma NOS;osteogenic sarcoma;osteoid sarcoma;osteosarcoma;osteosarcoma (disease);osteosarcoma, malignant;sarcoma of osteoid;skeletal sarcoma
Osteosclerosis	MONDO_0002933	Abnormally high bone density.	N/A
Other epidermal disorder	MONDO_0019274	N/A	N/A
Other genetic dermis disorder	MONDO_0018798	N/A	N/A
Otitis media	EFO_0004992	An acute or chronic inflammatory process affecting the middle ear.;Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.	inflammation of middle ear;medial otitis;middle Ear Inflammation;middle ear inflammation;otitis Media;otitis media (disease)
Otomandibular dysplasia	Orphanet_155896	N/A	otomandibular dysplasia
Otorhinolaryngologic disease	MONDO_0024623	Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.	ear, nose and throat disorder;ear, nose or throat disorder;otolaryngologic disorder;otorhinolaryngologic disease
Ototoxicity	EFO_0006951	damage to the ear, specifically the cochlea or auditory nerve as a result of some toxic stimulus, eg from a drug. Ototoxicity can result in hearing loss.	N/A
Ovarian adenocarcinoma	EFO_0006460	An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.	adenocarcinoma of ovary;adenocarcinoma of the ovary;ovarian adenoacanthoma;ovarian adenocarcinoma;ovary adenocarcinoma
Ovarian cancer	MONDO_0008170	A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.	cancer of ovary;cancer of the ovary;malignant neoplasm of ovary;malignant neoplasm of the ovary;malignant ovarian neoplasm;malignant ovarian tumor;malignant ovary neoplasm;malignant tumor of ovary;malignant tumor of the ovary;malignant tumour of ovary;ovarian cancer;ovarian malignant tumor;ovary cancer
Ovarian carcinoma	EFO_0001075	A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms.;A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002	carcinoma of ovary;carcinoma of the ovary;epithelial ovarian cancer;ovarian cancer;ovarian carcinoma;ovarian epithelial cancer;ovary carcinoma
Ovarian clear cell cancer	MONDO_0000548	An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.	clear-cell ovarian carcinoma;malignant ovarian clear cell neoplasm;malignant ovarian clear cell tumor
Ovarian clear cell tumor	MONDO_0021144	A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.	ovarian clear cell neoplasm;ovarian clear cell tumor
Ovarian cystadenocarcinoma	EFO_1001962	An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.	cystadenocarcinoma of ovary;cystadenocarcinoma of the ovary;ovarian cystadenocarcinoma;ovary cystadenocarcinoma
Ovarian disease	EFO_0005771	A disease involving the ovary.;A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors.	Ovarian Disorder;disease of ovary;disease or disorder of ovary;disease ovarian;disorder of ovary;ovarian disease;ovarian disorder;ovary disease;ovary disease or disorder
Ovarian dysfunction	EFO_0009003	The inability of the ovaries to function.;The inability of the ovaries to function. [ NCI ]	ovarian dysfunction;ovarian failure;ovarian hypofunction;ovarian insufficiency
Ovarian embryonal carcinoma	EFO_1000415	An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.	embryonal carcinoma of ovary;embryonal carcinoma of the ovary;ovarian embryonal carcinoma;ovary embryonal carcinoma
Ovarian endometrial cancer	MONDO_0003812	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	endometrioid neoplasm of ovary;endometrioid tumor of ovary;malignant ovarian endometrioid tumor;ovarian endometrioid neoplasm;ovary endometrioid tumor;ovary female reproductive endometrioid cancer
Ovarian endometriosis	EFO_1000418	A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.	endometriosis (disease) of ovary;endometriosis of ovary;ovarian endometriosis;ovary endometriosis (disease)
Ovarian epithelial tumor	MONDO_0002229	A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.	epithelial neoplasm of ovary;epithelial neoplasm of the ovary;epithelial tumor of ovary;epithelial tumor of the ovary;ovarian epithelial tumor;ovarian surface epithelial-stromal tumor;ovarian surface-epithelial stromal neoplasm;ovary epithelial neoplasm
Ovarian germ cell tumor	EFO_1000419	A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.	germ cell neoplasm of ovary;germ cell neoplasm of the ovary;germ cell tumor of ovary;germ cell tumor of the ovary;ovarian germ cell neoplasm;ovarian germ cell tumor;ovary germ cell tumor
Ovarian mixed epithelial tumor	EFO_1000425	A benign, borderline, or malignant surface epithelial-stromal tumor of the ovary. It is composed of an admixture of two or more of the following cell types, mucinous, serous, clear, transitional, or endometrioid cell.	N/A
Ovarian mucinous adenocarcinoma	EFO_0006462	An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.	mucinous adenocarcinoma of ovary;mucinous adenocarcinoma of the ovary;mucinous carcinoma of ovary;mucinous carcinoma of the ovary;ovarian epithelial-mucinous carcinoma;ovarian mucinous adenocarcinoma;ovarian mucinous carcinoma;ovary mucinous adenocarcinoma
Ovarian mucinous neoplasm	MONDO_0003756	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	mucinous neoplasm of ovary;mucinous neoplasm of the ovary;mucinous tumor of ovary;mucinous tumor of the ovary;ovarian mucinous neoplasm;ovarian mucinous tumor
Ovarian neoplasm	EFO_0003893	A benign, borderline, or malignant neoplasm involving the ovary.;Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.	Cancer of Ovary;NEOPL OVARIAN;Neoplasm, Ovarian;Neoplasm, Ovary;Neoplasms, Ovarian;Neoplasms, Ovary;OVARIAN NEOPL;OVARY NEOPL;Ovarian Neoplasms;Ovary Neoplasm;Ovary Neoplasms;neoplasm of ovary;neoplasm of the ovary;ovarian neoplasm;ovarian tumor;ovarian tumors;ovary neoplasm;ovary neoplasm (disease);ovary tumor;tumor of ovary;tumor of the ovary
Ovarian primitive germ cell tumor	MONDO_0003408	A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.	ovarian primitive germ cell tumor
Ovarian serous adenocarcinoma	EFO_0002917	An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.	malignant ovarian serous tumor;ovarian serous adenocarcinoma;ovarian serous carcinoma;ovary serous adenocarcinoma;serous adenocarcinoma of ovary;serous adenocarcinoma of the ovary;serous carcinoma of ovary;serous carcinoma of the ovary
Ovarian serous carcinoma	EFO_1001516	serous carcinoma located in the ovary	N/A
Ovarian serous cystadenocarcinoma	EFO_1000043	A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features;A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.	ovarian serous cystadenocarcinoma;serous cystadenoma
Ovarian serous tumor	MONDO_0037255	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.	ovarian serous neoplasm;ovarian serous tumor;serous neoplasm of ovary;serous neoplasm of the ovary;serous tumor of ovary;serous tumor of the ovary
Overgrowth syndrome	Orphanet_93460	N/A	N/A
Overlapping connective tissue disease	MONDO_0016663	N/A	N/A
Overnutrition	MONDO_0003916	An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.	N/A
Oxidative stress	EFO_1001905	A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).	N/A
Pain	EFO_0003843	An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.	Ache;Aches;Burning Pain;Burning Pains;Crushing Pain;Crushing Pains;Migratory Pain;Migratory Pains;Pain, Burning;Pain, Crushing;Pain, Migratory;Pain, Radiating;Pain, Splitting;Pains, Burning;Pains, Crushing;Pains, Migratory;Pains, Radiating;Pains, Splitting;Physical Suffering;Physical Sufferings;Radiating Pain;Radiating Pains;Splitting Pain;Splitting Pains;Suffering, Physical;Sufferings, Physical
Pain in abdomen	EFO_0003766	Painful sensation in the abdominal region.;Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases.	Abdominal Pain;Abdominal Pains;Pain, Abdominal;Pains, Abdominal
Palmoplantar keratoderma-esophageal carcinoma syndrome	Orphanet_2198	Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer . The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.	Bennion-Patterson syndrome;Howell-Evans syndrome;Keratosis palmoplantaris-esophageal carcinoma syndrome;Palmoplantar hyperkeratosis-esophageal carcinoma syndrome;Tylosis - oesophageal carcinoma;keratosis palmoplantaris-esophageal carcinoma syndrome;palmoplantar hyperkeratosis-esophageal carcinoma syndrome;palmoplantar keratoderma-esophageal carcinoma syndrome;tylosis-oesophageal carcinoma syndrome
Palmoplantar keratosis	EFO_1000745	A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.;A keratosis characterized by abnormal thickening of the palms and the soles.	Keratosis palmaris et plantaris;Palmoplantar Keratoderma;keratosis palmaris et plantaris;palmoplantar keratoderma;palmoplantar keratosis
Palsy	EFO_1000631	A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45);various types of paralysis, often accompanied by weakness and the loss of feeling and uncontrolled body movements such as shaking.	Plegia;Plegias;palsy
Pancreas disease	EFO_0009605	A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.;A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. [ NCIT:C26842 ]	disease of pancreas;disease or disorder of pancreas;disorder of pancreas;pancreas disease;pancreas disease or disorder;pancreas problem;pancreatic disorder
Pancreatic adenocarcinoma	EFO_1000044	A carcinoma that arises from glandular epithelial cells of the pancreas;An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma	adenocarcinoma - pancreas;adenocarcinoma of pancreas;adenocarcinoma of the pancreas;pancreas adenocarcinoma;pancreatic adenocarcinoma
Pancreatic adenosquamous carcinoma	EFO_0006732	A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.	adenosquamous carcinoma of pancreas;adenosquamous carcinoma of the pancreas;adenosquamous pancreas carcinoma;pancreas adenosquamous carcinoma;pancreatic adenoacanthoma;pancreatic adenosquamous cancer;pancreatic adenosquamous carcinoma;pancreatic mixed squamous and adenocarcinoma;pancreatic mucoepidermoid carcinoma
Pancreatic carcinoma	EFO_0002618	A carcinoma that arises from epithelial cells of the exocrine pancreas;A carcinoma that is located_in cells found in the tissues of the pancreas.;A carcinoma that is manifested in cells found in the tissues of the pancreas.;Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).	Cancer of Pancreas;Cancer of the Pancreas;Cancer, Pancreas;Cancer, Pancreatic;Cancers, Pancreas;Cancers, Pancreatic;Exocrine pancreas carcinoma;NEOPL PANCREATIC;Neoplasm, Pancreas;Neoplasm, Pancreatic;Neoplasms, Pancreas;Neoplasms, Pancreatic;PANCREAS NEOPL;PANCREATIC NEOPL;Pancreas Cancer;Pancreas Cancers;Pancreas Neoplasm;Pancreas Neoplasms;Pancreatic Cancer;Pancreatic Cancers;Pancreatic Neoplasm;Pancreatic Neoplasms;cancer of pancreas;cancer of the pancreas;carcinoma of exocrine pancreas;carcinoma of pancreas;carcinoma of pancreas (disorder);carcinoma of the pancreas;exocrine cancer;exocrine pancreas carcinoma;exocrine pancreatic carcinoma;pancreas cancer;pancreas carcinoma;pancreatic adenocarcinoma;pancreatic cancer;pancreatic cancer (not islets);pancreatic carcinoma
Pancreatic ductal adenocarcinoma	EFO_0002517	An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.	ductal adenocarcinoma of pancreas;ductal adenocarcinoma of the pancreas;malignant neoplasm of duct of Wirsung;pancreas ductal adenocarcinoma;pancreatic duct adenocarcinoma;pancreatic duct cancer;pancreatic ductal adenocarcinoma;pancreatic ductal carcinoma;pancreatic tubular adenocarcinoma
Pancreatic endocrine carcinoma	EFO_0007416	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.;An islet cell tumor that has_material_basis_in epithelial cells.	Carcinoma, Islet Cell;Islet cell carcinoma (morphologic abnormality);Pancreatic Neuroendocrine cancer;carcinoma of endocrine pancreas;carcinoma of endocrine pancreas (disorder);carcinoma, islet cell, malignant;endocrine pancreas carcinoma;high grade pancreatic neuroendocrine carcinoma;high-grade pancreatic neuroendocrine carcinoma;islet cell cancer;islet cell carcinoma;islet cell carcinoma (morphologic abnormality);malignant islet cell tumor;malignant neoplasm of islets of Langerhans;malignant pancreatic endocrine tumor;pancreatic NEC;pancreatic NEC G3;pancreatic endocrine cancer;pancreatic endocrine carcinoma;pancreatic neuroendocrine carcinoma;poorly differentiated pancreatic endocrine carcinoma;poorly-differentiated NEN of pancreas;poorly-differentiated neuroendocrine neoplasm of pancreas;poorly-differentiated pancreatic NEN;poorly-differentiated pancreatic neuroendocrine neoplasm
Pancreatic exocrine neoplasm	MONDO_0021076	A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	exocrine pancreas neoplasm;exocrine pancreas neoplasm (disease);exocrine pancreas tumor;neoplasm of exocrine pancreas;neoplasm of the exocrine pancreas;pancreatic exocrine neoplasm;pancreatic exocrine tumor;tumor of exocrine pancreas;tumor of the exocrine pancreas
Pancreatic neoplasm	EFO_0003860	A benign or malignant neoplasm involving the pancreas.;Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).	NEOPL PANCREATIC;Neoplasm, Pancreas;Neoplasm, Pancreatic;Neoplasms, Pancreas;Neoplasms, Pancreatic;PANCREAS NEOPL;PANCREATIC NEOPL;Pancreas Neoplasm;Pancreas Neoplasms;Pancreatic Neoplasms;neoplasm of pancreas;neoplasm of the pancreas;pancreas neoplasm;pancreas neoplasm (disease);pancreas tumor;pancreatic cancer;pancreatic neoplasm;pancreatic tumor;tumor of pancreas;tumor of the pancreas
Pancreatic neuroendocrine tumor	EFO_1000045	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional;Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).	Islet cell tumors of the pancreas;islet cell tumor;islet cell tumors - pancreas;islet cell tumors of the pancreas;pancreatic NET;pancreatic neuroendocrine tumor;well differentiated pancreatic endocrine neoplasm;well differentiated pancreatic endocrine tumor;well-differentiated NEN of pancreas;well-differentiated neuroendocrine neoplasm of pancreas;well-differentiated pancreatic NEN;well-differentiated pancreatic neuroendocrine neoplasm
Pancreatic serous cystic neoplasm	MONDO_0002810	N/A	N/A
Pancreatitis	EFO_0000278	INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.;Inflammation of the pancreas.	Pancreatitides;Pancreatitis (disorder);Pancreatitis NOS;Pancreatitis, NOS;inflammation of pancreas;pancreas inflammation;pancreatitis
Panic disorder	EFO_0004262	A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait.;An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.	panic anxiety syndrome;panic attack;panic attacks;panic disorder;panic disorder syndrome;panic syndrome
Panuveitis	EFO_1001082	A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.;Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved.	Diffuse uveitis;Panuveitis;diffuse uveitis;panuveitis;panuveitis (disease);total uveitis
Papillary adenocarcinoma	MONDO_0002512	A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.	adenocarcinoma, papillary, malignant;infiltrating and papillary adenocarcinoma;infiltrating papillary adenocarcinoma;papillary adenocarcinoma;papillary adenocarcinoma (morphologic abnormality);papillary adenocarcinoma NOS (morphologic abnormality)
Papillary carcinoma	EFO_1000646	A carcinoma that is derived from epithelial cells with finger like projections;A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.	papillary carcinoma;papillary carcinoma (morphologic abnormality);papillary carcinoma NOS (morphologic abnormality)
Papillary epithelial neoplasm	MONDO_0021096	N/A	papillary epithelial neoplasm
Papillary thyroid carcinoma	EFO_0000641	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland.  It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries.  Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy.  Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei.  The nuclei also display clearing or have a ground glass appearance.  Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy.  Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.;A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.	PTC - Papillary thyroid carcinoma;Papillary Carcinoma of Thyroid Gland;Papillary Carcinoma of the Thyroid;Papillary Carcinoma of the Thyroid Gland;Papillary Thyroid Cancer;Papillary Thyroid Gland Carcinoma;Papillary carcinoma of thyroid;Papillary thyroid carcinoma (disorder);Thyroid Gland Papillary Carcinoma;Thyroid Papillary Carcinoma;papillary Thyroid cancer;papillary Thyroid carcinoma;papillary Thyroid gland carcinoma;papillary cancer of Thyroid;papillary cancer of Thyroid gland;papillary cancer of the Thyroid;papillary cancer of the Thyroid gland;papillary carcinoma of Thyroid;papillary carcinoma of Thyroid gland;papillary carcinoma of the Thyroid;papillary carcinoma of the Thyroid gland;papillary thyroid cancer;papillary thyroid carcinoma;thyroid gland papillary cancer;thyroid gland papillary carcinoma;thyroid papillary carcinoma
Paraganglioma	EFO_1000453	A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.	Paraganglionic neoplasm;Paraganglionic tumor;neoplasm of paraganglion;neoplasm of the paraganglion;paraganglioma;paragangliomas;paraganglion neoplasm;paraganglion tumor;tumor of paraganglion;tumor of the paraganglion
Paramyxoviridae infectious disease	EFO_0007419	A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses.;Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.	Paramyxoviridae Infections;Paramyxoviridae caused disease or disorder;Paramyxoviridae disease or disorder;Paramyxoviridae infectious disease
Paranasal sinus cancer	MONDO_0020669	A primary or metastatic malignant neoplasm involving the paranasal sinuses.	malignant accessory sinus neoplasm;malignant accessory sinus tumor;malignant neoplasm of accessory sinus;malignant neoplasm of paranasal sinus;malignant neoplasm of the accessory sinus;malignant neoplasm of the paranasal sinus;malignant paranasal sinus neoplasm;malignant paranasal sinus tumor;malignant tumor of accessory sinus;malignant tumor of paranasal sinus;malignant tumor of the accessory sinus;malignant tumor of the paranasal sinus
Paranasal sinus carcinoma	MONDO_0000380	A malignant epithelial neoplasm arising in the paranasal sinus.	accessory sinus cancer;accessory sinus carcinoma;cancer of paranasal sinus;carcinoma of accessory sinus;carcinoma of paranasal sinus;carcinoma of the accessory sinus;carcinoma of the paranasal sinus;malignant neoplasm of paranasal sinus;malignant paranasal sinus neoplasm;paranasal sinus cancer;paranasal sinus carcinoma
Paranasal sinus disease	EFO_0009481	A disease involving the paranasal sinus.	disease of paranasal sinus;disease or disorder of paranasal sinus;disorder of nasal sinus;disorder of paranasal sinus;paranasal sinus disease;paranasal sinus disease or disorder;paranasal sinus disorder;sinus disorder
Paranasal sinus neoplasm	EFO_0003866	A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.;Tumors of the PARANASAL SINUSES.	NEOPL PARANASAL SINUS;Neoplasm, Paranasal Sinus;Neoplasms, Paranasal Sinus;PARANASAL SINUS NEOPL;Paranasal Sinus Neoplasms;accessory sinus neoplasm;accessory sinus tumor;neoplasm of accessory sinus;neoplasm of paranasal sinus;neoplasm of the accessory sinus;neoplasm of the paranasal sinus;paranasal sinus neoplasm;paranasal sinus neoplasm (disease);paranasal sinus neoplasms;paranasal sinus tumor;tumor of accessory sinus;tumor of paranasal sinus;tumor of the accessory sinus;tumor of the paranasal sinus
Paraplegia	EFO_0009679	Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.;Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. [database_cross_reference: NCIT:P378]	paraplegia;paraplegia, lower
Parasitic infection	EFO_0001067	A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.;A disease by infectious agent that is carried out by parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.;A successful invasion of a host by an organism that uses the host for food and shelter.;A systemic infectious disease that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.;Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure.	Disease caused by parasite;Disease caused by parasite (disorder);Disease caused by parasite, NOS;Disease, Parasitic;Diseases, Parasitic;Ectoparasitic disease;Infestation;Infestation, NOS;PARASITIC DIS;Parasite infestation;Parasite infestation, NOS;Parasitic Diseases;Parasitic disease;Parasitic disease, NOS;Parasitic endophthalmitis (disorder);Parasitic endophthalmitis NOS;Parasitic endophthalmitis NOS (disorder);Parasitic eye infection (disorder);Parasitic infection of lung;Parasitic infection of skin;Parasitic infection, NOS;Parasitic infectious disease of the central nervous system (disorder);Parasitic infectious disease, NOS;Parasitic infestation of orbit (disorder);Parasitic skin infestation (disorder);Parasitism;Parasitism, NOS;Parasitosis;Parasitosis, NOS;Psorospermiasis (disorder);animal parasitic infectious disease;central nervous system parasitic infectious disease;disease caused by parasite;intestinal parasitism (disorder);intestinal parasitism NOS (disorder);intestinal parasitism, unspecified;intestinal parasitism, unspecified (disorder);parasitemia;parasitic animal;parasitic disease;parasitic endophthalmitis;parasitic eye infection;parasitic eye infectious disease;parasitic gastrointestinal disorder;parasitic infection;parasitic infectious disease;parasitic infestation of orbit;parasitic intestinal infectious disease;parasitic liver disorder;parasitic liver infectious disease;parasitic lung infectious disease;parasitic pregnancy complication;parasitic skin disorder;parasitic skin infectious disease;psorospermiasis;skin Infestation NOS
Parathyroid disease	EFO_0005754	A disease involving the parathyroid gland.;a disease that occurs in the parathyroid	disease of parathyroid gland;disease of parathyroid glands;disease or disorder of parathyroid gland;disorder of parathyroid gland;parathyroid disease;parathyroid disorder;parathyroid gland disease;parathyroid gland disease or disorder;parathyroid gland diseases;parathyroid gland disorder;parathyroid gland disorders
Parathyroid gland carcinoma	EFO_1000456	A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion.;Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.	adenocarcinoma of parathyroid;adenocarcinoma of parathyroid gland;adenocarcinoma of the parathyroid;adenocarcinoma of the parathyroid gland;cancer of parathyroid gland;cancer of the parathyroid gland;carcinoma of parathyroid;carcinoma of parathyroid gland;carcinoma of the parathyroid;carcinoma of the parathyroid gland;malignant neoplasm of parathyroid gland;malignant neoplasm of the parathyroid;malignant tumor of parathyroid gland;neoplasm of parathyroid gland;parathyroid adenocarcinoma;parathyroid cancer;parathyroid carcinoma;parathyroid gland adenocarcinoma;parathyroid gland cancer;parathyroid gland carcinoma;parathyroid gland neoplasm;parathyroid neoplasm
Parental longevity	EFO_0007796	length of an individual's parents' life, either taken individually (paternal or maternal longevity) or in combination and sometimes used as an indicator of an individual longevity	N/A
Parkinsonian disorder	MONDO_0021095	A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.	N/A
Parkinson's disease	EFO_0002508	A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.;A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.;A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)	IDIOPATHIC PARKINSON DIS;IDIOPATHIC PARKINSONS DIS;Idiopathic PD;Idiopathic Parkinson Disease;Idiopathic Parkinson's Disease;LEWY BODY PARKINSON DIS;Lewy Body Parkinson Disease;Lewy Body Parkinson's Disease;PARKINSON DIS;PARKINSON DIS IDIOPATHIC;PARKINSONS DIS;PARKINSONS DIS IDIOPATHIC;PARKINSONS DIS LEWY BODY;Paralysis agitans;Parkinson Disease, Idiopathic;Parkinson disease;Parkinson syndrome;Parkinson's;Parkinson's Disease, Idiopathic;Parkinson's Disease, Lewy Body;Parkinson's disease;Parkinson's disease (disorder);Parkinson's disease NOS;Parkinson's disease NOS (disorder);Parkinson's syndrome;Parkinsonian disorder;Parkinsonism, Primary;Parkinsons;Parkinsons disease;Primary Parkinsonism;paralysis agitans
Parotid disease	EFO_0007422	A disease involving the parotid gland.;a disease in parotid gland	disease of parotid gland;disease or disorder of parotid gland;disorder of parotid gland;parotid disease;parotid gland disease;parotid gland disease or disorder
Parotid gland cancer	MONDO_0004700	A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.	cancer of parotid;cancer of parotid gland;cancer of the parotid;cancer of the parotid gland;malignant neoplasm of parotid;malignant neoplasm of parotid gland;malignant neoplasm of the parotid;malignant neoplasm of the parotid gland;malignant parotid gland neoplasm;malignant parotid gland tumor;malignant parotid neoplasm;malignant parotid tumor;malignant tumor of parotid;malignant tumor of parotid gland;malignant tumor of the parotid;malignant tumor of the parotid gland;parotid cancer;parotid gland cancer
Parotid gland neoplasm	MONDO_0021243	A neoplasm (disease) that involves the parotid gland.	neoplasm of parotid;neoplasm of parotid gland;neoplasm of the parotid;neoplasm of the parotid gland;parotid gland neoplasm (disease);parotid gland tumor;parotid neoplasm;parotid tumor;tumor of parotid;tumor of parotid gland;tumor of the parotid;tumor of the parotid gland
Parotid neoplasm	EFO_0003873	N/A	Cancer of Parotid;Cancer of the Parotid;Cancer, Parotid;Cancers, Parotid;NEOPL PAROTID;Neoplasm, Parotid;Neoplasms, Parotid;PAROTID NEOPL;Parotid Cancer;Parotid Cancers;Parotid Gland Neoplasm;Parotid Neoplasms
Partial autosomal monosomy	Orphanet_98142	N/A	Partial autosomal deletion;partial autosomal deletion;partial autosomal monosomy
Partial autosomal trisomy/tetrasomy	Orphanet_98132	N/A	partial autosomal trisomy/tetrasomy
Partial deletion of chromosome 5	Orphanet_261786	N/A	Partial monosomy of chromosome 5;partial deletion of chromosome 5;partial deletion of chromosome type 5;partial monosomy of chromosome 5
Partial deletion of chromosome 7	Orphanet_261796	N/A	Partial monosomy of chromosome 7;partial deletion of chromosome 7;partial deletion of chromosome type 7;partial monosomy of chromosome 7
Partial deletion of the long arm of chromosome 15	Orphanet_262119	N/A	Partial deletion of chromosome 15q;Partial monosomy of chromosome 15q;Partial monosomy of the long arm of chromosome 15;partial deletion of chromosome 15q;partial deletion of the long arm of chromosome 15;partial deletion of the long arm of chromosome type 15;partial monosomy of chromosome 15q;partial monosomy of the long arm of chromosome 15
Partial deletion of the long arm of chromosome 22	Orphanet_262182	N/A	Partial deletion of chromosome 22q;Partial monosomy of chromosome 22q;Partial monosomy of the long arm of chromosome 22;partial deletion of chromosome 22q;partial deletion of the long arm of chromosome 22;partial deletion of the long arm of chromosome type 22;partial monosomy of chromosome 22q;partial monosomy of the long arm of chromosome 22
Partial deletion of the long arm of chromosome 5	Orphanet_262038	N/A	Partial deletion of chromosome 5q;Partial monosomy of chromosome 5q;Partial monosomy of the long arm of chromosome 5;partial deletion of chromosome 5q;partial deletion of the long arm of chromosome 5;partial deletion of the long arm of chromosome type 5;partial monosomy of chromosome 5q;partial monosomy of the long arm of chromosome 5
Partial deletion of the long arm of chromosome 7	Orphanet_262056	N/A	Partial deletion of chromosome 7q;Partial monosomy of chromosome 7q;Partial monosomy of the long arm of chromosome 7
Partial duplication of chromosome 12	MONDO_0042968	N/A	N/A
Partial duplication of chromosome 17	Orphanet_262677	N/A	Partial trisomy of chromosome 17;partial duplication of chromosome 17;partial duplication of chromosome type 17;partial trisomy of chromosome 17
Partial duplication of the short arm of chromosome 17	Orphanet_262803	N/A	Partial duplication of chromosome 17p;Partial trisomy of chromosome 17p;Partial trisomy of the short arm of chromosome 17;partial duplication of chromosome 17p;partial duplication of the short arm of chromosome 17;partial duplication of the short arm of chromosome type 17;partial trisomy of chromosome 17p;partial trisomy of the short arm of chromosome 17
Partial epilepsy	EFO_0004263	A seizure caused by a localized disorder.;Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317).	epilepsies, partial;focal epilepsy;localisation-related epilepsy;partial epilepsies;partial epilepsy
Partial thromboplastin time	EFO_0004310	The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy.	Cephalin-Kaolin coagulation time;activated partial thromboplastin time
Partial trisomy/tetrasomy of the short arm of chromosome 12	Orphanet_262658	N/A	Partial duplication/triplication of chromosome 12p;Partial duplication/triplication of the short arm of chromosome 12;Partial trisomy/tetrasomy of chromosome 12p;partial duplication/triplication of chromosome 12p;partial duplication/triplication of the short arm of chromosome 12;partial trisomy/tetrasomy of chromosome 12p;partial trisomy/tetrasomy of the short arm of chromosome 12;partial trisomy/tetrasomy of the short arm of chromosome type 12
Pathological myopia	EFO_0004207	Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS.	degenerative myopia;myopia (pathological);myopia, pathological;progressive myopia
Pecoma	EFO_1000464	A soft tissue mesenchymal tumor with perivascular epithelioid cell differentiation. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.;A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.	PEComa;Perivascular Epithelioid Cell Neoplasms;neoplasm with Perivascular epithelioid cell differentiation;neoplasm with perivascular epithelioid cell differentiation;perivascular epithelioid cell tumor;tumor with perivascular epithelioid cell differentiation
Pediatric lymphoma	MONDO_0003659	A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.	childhood lymphoma;lymphoma;pediatric lymphoma
Pelizaeus-merzbacher disease	Orphanet_702	Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).	Diffuse familial brain sclerosis;PMD;Pelizaeus-Merzbacher brain sclerosis;Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Pelvic inflammatory disease	EFO_1001388	A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility.;Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.	PID;pelvic inflammatory disease
Pelvic organ prolapse	EFO_0004710	Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines.;Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.	Organ Prolapse, Pelvic;Organ Prolapses, Pelvic;Pelvic Organ Prolapses;Prolapse, Pelvic Organ;Prolapse, Urogenital;Prolapse, Vaginal Vault;Prolapses, Pelvic Organ;Prolapses, Urogenital;Prolapses, Vaginal Vault;Urogenital Prolapse;Urogenital Prolapses;Vaginal Vault Prolapse;Vaginal Vault Prolapses;Vault Prolapse, Vaginal;Vault Prolapses, Vaginal;pelvic organ prolapse
Pemphigus	EFO_1000749	Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. [ Orphanet:63455 ];Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus;a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.	pemphigus
Penile cancer	MONDO_0001325	A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.	Ca penis;cancer of penis;malignant neoplasm of body of penis;malignant neoplasm of penis;malignant neoplasm of the penis;malignant penile neoplasm;malignant penile tumor;malignant penis neoplasm;malignant tumor of penis;malignant tumor of the penis;penile Ca;penile cancer;penis cancer
Penile carcinoma	EFO_1000465	A carcinoma that arises from epithelial cells of the penis;A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy.	cancer of penis;cancer of the penis;carcinoma of penis;carcinoma of the penis;penile carcinoma;penis carcinoma
Penile disease	MONDO_0002036	A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	disease of penis;disease or disorder of penis;disorder of penis;penile disease;penile disorder;penis disease;penis disease or disorder
Penile neoplasm	EFO_1001094	A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.;Cancers or tumors of the PENIS or of its component tissues.	Penile Neoplasms;Penile tumor;neoplasm of penis;neoplasm of penis (disorder);neoplasm of the penis;penile neoplasm;penile neoplasms;penile tumor;penis neoplasm;penis neoplasm (disease);penis tumor;tumor of penis;tumor of the penis
Peptic ulcer disease	MONDO_0004247	A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding.	acute peptic ulcer with hemorrhage;acute peptic ulcer with hemorrhage and perforation;acute peptic ulcer without hemorrhage and without perforation;peptic ulcer
Perceived unattractiveness to mosquitos measurement	EFO_0008380	quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire	N/A
Perceptual disorders	MONDO_0024417	Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.	N/A
Periampullary adenocarcinoma	MONDO_0004465	N/A	N/A
Peri-implantitis	EFO_1001390	An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS.	N/A
Periodic fever syndrome	MONDO_0015137	fevers of unknown etiology recurring over months or years.	N/A
Periodontal disease	DOID_3388	N/A	Periodontal disease;disease of supporting structures of teeth;periodontium disorder
Periodontal disease	MONDO_0002635	An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.	disease of periodontium;disease of supporting structures of teeth;disease or disorder of periodontium;disorder of periodontium;periodontal disease;periodontal disorder;periodontium disease;periodontium disease or disorder;periodontium disorder
Periodontitis	EFO_0000649	An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.;Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)	Pericementitides;Pericementitis;Periodontitides;Periodontitis (disorder);Periodontitis, NOS;chronic pericementitis;inflammation of periodontium;periodontitis;periodontium inflammation
Peripheral arterial disease	EFO_0004265	A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.;Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less.	Occlusive Peripheral Arterial Disease;pad;peripheral arterial disease;peripheral arterial diseases;peripheral arterial disorder;peripheral artery disease
Peripheral nerve injury	EFO_0009510	Injury to a peripheral nerve.	N/A
Peripheral nervous system cancer	MONDO_0021089	Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location	cancer of peripheral nervous system;malignant PNS neoplasm;malignant PNS tumor;malignant neoplasm of PNS;malignant neoplasm of peripheral nerve;malignant neoplasm of peripheral nervous system;malignant neoplasm of the PNS;malignant neoplasm of the peripheral nerve;malignant neoplasm of the peripheral nervous system;malignant neoplasms, peripheral nerve;malignant peripheral nerve neoplasm;malignant peripheral nerve tumor;malignant peripheral nervous system neoplasm;malignant peripheral nervous system tumor;malignant tumor of PNS;malignant tumor of peripheral nerve;malignant tumor of peripheral nervous system;malignant tumor of the PNS;malignant tumor of the peripheral nerve;malignant tumor of the peripheral nervous system;peripheral nervous system cancer;peripheral nervous system neoplasms, malignant
Peripheral nervous system disease	EFO_0009387	A disease involving the peripheral nervous system.	PNS (peripheral nervous system) diseases;PNS disease;PNS diseases;disease of peripheral nervous system;disease or disorder of peripheral nervous system;disorder of peripheral nervous system;disorder of the peripheral nervous system;peripheral nerve disorder;peripheral nervous disease;peripheral nervous system disease;peripheral nervous system disease or disorder;peripheral nervous system disorder;peripheral nervous system disorders
Peripheral nervous system neoplasm	MONDO_0001406	A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.	CNS-excluded nervous sys. cancer;PNS neoplasm;PNS neoplasms;PNS tumor;neoplasm of PNS;neoplasm of peripheral nerve;neoplasm of peripheral nervous system;neoplasm of the PNS;neoplasm of the peripheral nerve;neoplasm of the peripheral nervous system;neoplasms, PNS;neoplasms, peripheral nervous system;peripheral nerve neoplasm;peripheral nerve tumor;peripheral nervous system neoplasm;peripheral nervous system neoplasm (disease);peripheral nervous system tumor;tumor of PNS;tumor of peripheral nerve;tumor of peripheral nervous system;tumor of the PNS;tumor of the peripheral nerve;tumor of the peripheral nervous system
Peripheral neuropathy	EFO_0003100	A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.	neuropathy;peripheral nerve disorder;peripheral neuropathy
Peripheral vascular disease	EFO_0003875	Any disorder affecting blood flow through the veins or arteries outside of the heart.;Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.	Angiopathies, Peripheral;Angiopathy, Peripheral;DIS PERIPHERAL VASCULAR;Disease, Peripheral Vascular;Diseases, Peripheral Vascular;PERIPHERAL VASCULAR DIS;Peripheral Angiopathies;Peripheral Angiopathy;Peripheral Vascular Diseases;VASCULAR DIS PERIPHERAL;Vascular Disease, Peripheral;Vascular Diseases, Peripheral;arterial occlusive disease;disease, peripheral vascular;peripheral vascular disease;peripheral vascular disorder;vascular disease, peripheral
Peritoneal fibrosis	EFO_1001394	Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency.	N/A
Peritoneal neoplasm	EFO_1001100	A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.;Tumors or cancer of the PERITONEUM.	Peritoneal Neoplasms;neoplasm of peritoneum;neoplasm of peritoneum (disorder);peritoneal neoplasm;peritoneum neoplasm;peritoneum neoplasm (disease);peritoneum tumor;tumor of peritoneum
Peritonitis	EFO_0008588	Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.;Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. [ NCI ]	acute generalized peritonitis;inflammation of peritoneum;peritoneum inflammation;peritonitis;primary bacterial peritonitis;retractile mesenteritis;sclerosing mesenteritis
Periventricular leukomalacia	EFO_1001101	Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1);Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy , delayed mental development, coordination problems, and vision and hearing impairments.There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.	Leukomalacia, Periventricular;Periventricular leucomalacia (disorder);Periventricular leukomalacia;periventricular leukomalacia
Perlman syndrome	Orphanet_2849	Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.	Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
Persistent fetal circulation syndrome	EFO_1001103	A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.;A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT).	Fetal circulation;PPHN;Persistent Fetal Circulation Syndrome;Persistent fetal circulation;Persistent fetal circulation (disorder);Persistent fetal circulation syndrome (disorder);Persistent pulmonary hypertension of the newborn (disorder);congenital alveolar capillary dysplasia with misalignment of pulmonary veins;persistent fetal circulation;persistent fetal circulation syndrome;persistent pulmonary hypertension of the newborn
Personality trait	EFO_0004365	The characteristics in behavior that a certain person has.	personality dimension;personality dimensions
Pervasive developmental disorder	MONDO_0000594	A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.	pervasive development disorder
Phacogenic glaucoma	MONDO_0001554	secondary glaucoma caused by either excessive size or spheric shape of the lens.	phacomorphic glaucoma
Phaeochromocytoma	DOID_0050771	N/A	N/A
Phagocytic cell dysfunction	MONDO_0024627	N/A	defective phagocytosis;phagocytic cell dysfunction
Phakomatosis with eye involvement	Orphanet_98701	N/A	phakomatosis with eye involvement
Pharyngeal squamous cell carcinoma	EFO_1001965	A squamous cell carcinoma that arises from the pharynx.	pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma;pharyngeal squam. cell carcinoma;pharyngeal squamous cell carcinoma;pharyngeal throat squamous cell cancer;pharynx squamous cell carcinoma
Pharyngoconjunctival fever	EFO_0007434	A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.;A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache.	Adenoviral pharyngoconjunctivitis;Adenoviral pharyngoconjunctivitis (disorder);Adenovirus Infections, Human;Pharyngoconjunctival Fever;Pharyngoconjunctival fever;pharyngo-conjunctival fever;pharyngoconjunctival fever
Pharynx cancer	EFO_0005577	A primary or metastatic malignant neoplasm that affects the pharynx.	Malignant Pharyngeal Neoplasm;Malignant Pharyngeal Tumor;Malignant Pharynx Neoplasm;Malignant Pharynx Tumor;Malignant Tumor of Pharynx;Malignant Tumor of the Pharynx;cancer of chordate pharynx;cancer of pharynx;chordate pharynx cancer;malignant chordate pharynx neoplasm;malignant neoplasm of chordate pharynx;malignant neoplasm of pharynx;malignant pharyngeal neoplasm;malignant pharyngeal tumor;malignant pharynx neoplasm;malignant pharynx tumor;malignant tumor of pharynx;malignant tumor of the pharynx;pharyngeal neoplasm;pharynx cancer
Pharynx neoplasm	MONDO_0021246	A neoplasm (disease) that involves the pharynx.	neoplasm of pharynx;neoplasm of the pharynx;pharyngeal neoplasms;pharyngeal tumor;pharynx neoplasm (disease);pharynx tumor;tumor of pharynx;tumor of the pharynx
Phenotypic abnormality	HP_0000118	A phenotypic abnormality.	Organ abnormality
Phenylketonuria	Orphanet_716	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.	PAH deficiency;PKU;Phenylalanine hydroxylase deficiency
Phospholipid measurement	EFO_0004639	Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies.	plasma phospholipid levels
Phyllodes tumor	EFO_0000653	A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland.  It may recur following resection.  The recurrence rates are higher for borderline and malignant phyllodes tumors.  In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur.  The incidence of metastases is higher in malignant phyllodes tumors.;A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.;A type of connective tissue neoplasm arising from intralobular stroma of the BREAST. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS.;A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known.	CSP;Cystosarcoma Phyllodes, Malignant;Cystosarcoma Phylloides;Cystosarcoma phyllodes;Cystosarcoma phyllodes NOS (morphologic abnormality);Cystosarcoma phyllodes, NOS;Malignant Cystosarcoma Phyllodes;Phyllodes Neoplasm;Phyllodes Tumors;Phyllodes tumor, NOS;Phyllodes tumor, borderline;Phyllodes tumor, borderline (morphologic abnormality);Phyllodes tumour;Phyllodes tumour, borderline;Tumor, Phyllodes;Tumors, Phyllodes;[M]Cystosarcoma phyllodes NOS;[M]Cystosarcoma phyllodes NOS (morphologic abnormality);cystosarcoma phyllodes;phyllodes neoplasm;phyllodes tumor
Physical activity	EFO_0003940	The physical activity of a human or an animal as a behavioral phenomenon.	Activities, Locomotor;Activities, Motor;Activities, Physical;Activity, Locomotor;Activity, Motor;Activity, Physical;Locomotor Activities;Locomotor Activity;Motor Activities;Motor Activity;Physical Activities
Picornaviridae infectious disease	EFO_0007438	A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses.;Virus diseases caused by the picornaviridae.	Picornaviridae Infections;Picornaviridae infection;Picornaviridae infectious disease
Pierre robin syndrome associated with a chromosomal anomaly	Orphanet_138047	N/A	Pierre Robin sequence associated with a chromosomal anomaly;Pierre Robin syndrome associated with a chromosomal anomaly
Pigmentation disease	EFO_1000755	a group of diseases affecting the color of skin	disorder of pigmentation;pigmentation disease;skin pigmentation disorder
Pineal body neoplasm	MONDO_0021232	A neoplasm (disease) that involves the pineal body.	neoplasm of pineal area;neoplasm of pineal body;neoplasm of pineal region;neoplasm of the pineal area;neoplasm of the pineal region;pineal area neoplasm;pineal area tumor;pineal body neoplasm (disease);pineal body tumor;pineal neoplasm;pineal region neoplasm;pineal region tumor;pineal tumor;pinealoma;tumor of pineal area;tumor of pineal body;tumor of pineal region;tumor of the pineal area;tumor of the pineal region
Pineal gland cancer	MONDO_0003249	Abnormal malignant growth of the cells that comprise the pineal parenchyma.	Pineocytic tumor;cancer of pineal body;malignant neoplasm of pineal body;malignant neoplasm of pineal gland;malignant neoplasm of the pineal gland;malignant pineal area neoplasm;malignant pineal area tumor;malignant pineal body neoplasm;malignant pineal gland neoplasm;malignant pineal gland tumor;malignant pineal region neoplasm;malignant pineal region tumor;malignant tumor of pineal gland;malignant tumor of the pineal gland;neoplasm of pineal gland;neoplasm of the pineal region;pineal body cancer;pineal body neoplasm;pinealoma;tumor of the pineal region
Pituitary cancer	EFO_0005578	A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.;An endocrine gland cancer located_in the pituitary gland located at the base of the brain.	Pituitary gland neoplasm;cancer of pituitary gland;malignant Pituitary neoplasm;malignant neoplasm of pituitary;malignant neoplasm of pituitary gland;malignant neoplasm of the pituitary;malignant neoplasm of the pituitary gland;malignant pituitary gland neoplasm;malignant pituitary gland tumor;malignant pituitary neoplasm;malignant pituitary tumor;malignant tumor of pituitary;malignant tumor of pituitary gland;malignant tumor of the pituitary;malignant tumor of the pituitary gland;neoplasm of pituitary gland;pituitary cancer;pituitary gland cancer;pituitary neoplasms, malignant;pituitary tumor, malignant
Pituitary deficiency	Orphanet_101957	N/A	pituitary deficiency
Pituitary-dependent cushing's disease	EFO_1001110	A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME.;Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS (see this term) caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS; see these terms) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).	ACTH-dependent CS;ACTH-dependent Cushing syndrome;Overproduction of ACTH;Pituitary ACTH Hypersecretion;adrenocorticotropic hormone-dependent Cushing syndrome;corticotropin-dependent Cushing syndrome;overproduction of ACTH;pituitary-dependent Cushing disease;pituitary-dependent Cushing's disease
Pituitary dwarfism	EFO_1001109	A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.;Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.	Dwarfism, Pituitary;Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)];Lorain - Levi dwarfism;hypopituitary dwarfism;pituitary dwarfism
Pituitary gland adenoma	EFO_1000478	A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.;A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa. A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.	adenoma of pituitary;adenoma of pituitary gland;adenoma of the pituitary;adenoma of the pituitary gland;adenoma, anterior lobe pituitary gland, benign;pituitary adenoma;pituitary gland adenoma
Pituitary gland disease	EFO_0009607	A disease involving the pituitary gland.;A disease involving the pituitary gland. [ MONDO:DesignPattern ]	disease of pituitary gland;disease or disorder of pituitary gland;disorder of pituitary gland;pituitary disease;pituitary gland disease;pituitary gland disease or disorder;pituitary gland disorder
Pituitary tumor	MONDO_0017611	A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.	neoplasm of pituitary;neoplasm of pituitary gland;neoplasm of the pituitary;neoplasm of the pituitary gland;pituitary gland neoplasm;pituitary gland tumor;pituitary neoplasm;pituitary tumor;tumor of pituitary;tumor of pituitary gland;tumor of the pituitary;tumor of the pituitary gland
Placenta cancer	MONDO_0002178	A malignant neoplasm involving the placenta.	cancer of placenta;deciduoma, malignant;malignant neoplasm of placenta;malignant neoplasm of the placenta;malignant placenta neoplasm;malignant placenta tumor;malignant placental neoplasm;malignant placental tumor;malignant tumor of placenta;malignant tumor of the placenta;neoplasm of placenta;placenta cancer;placental cancer;placental tumors;primary malignant neoplasm of placenta
Placenta disease	EFO_0007441	A disease involving the placenta.;a disease located in the placenta	disease of placenta;disease or disorder of placenta;disorder of placenta;placenta disease;placenta disease or disorder;placenta diseases;placenta disorder;placenta disorders;placental disorder
Placental site trophoblastic tumor	EFO_1001111	An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected.;Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT; see this term) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.	PSST;Placental site trophoblastic tumor (disorder);Placental site trophoblastic tumor (morphologic abnormality);Placental-Site Gestational Trophoblastic neoplasm;Trophoblastic Tumor, Placental Site;placental site gestational trophoblastic tumor;placental site trophoblastic tumor;placental site trophoblastic tumor (morphologic abnormality);placental-site GTT;placental-site gestational trophoblastic neoplasm;placental-site gestational trophoblastic tumor
Placenta neoplasm	MONDO_0021218	A neoplasm (disease) that involves the placenta.	neoplasm of placenta;neoplasm of the placenta;placenta neoplasm (disease);placenta neoplasms;placenta tumor;placenta tumors;placental neoplasm;placental tumor;placental tumors;tumor of placenta;tumor of the placenta
Plantar wart	EFO_1002023	A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. [  url:http://en.wikipedia.org/wiki/Plantar_wart  ];A wart in the plantar surface of the foot. It is caused by human papillomavirus.	plantar wart;verruca plantaris
Plasma cell neoplasm	EFO_0000200	A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.	plasma cell dyscrasia;plasma cell neoplasm;plasma cell tumor;plasma cell tumor, malignant;plasma cell tumour;plasmacytic neoplasm;plasmacytic tumor;plasmacytic tumour
Plasma clusterin measurement	EFO_0007656	quantification of the amount of the clusterin in a sample of blood plasma	N/A
Plasmacytoma	EFO_0006738	A malignant (clonal) proliferation of plasma cells that are cytologically and immunophenotypically identical to those of plasma cell myeloma, but manifest a localized osseous or extraosseous growth pattern. (WHO, 2001);Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.	Myeloma - solitary;Solitary myeloma;Solitary plasmacytoma;plasma cell tumor;plasmacytoma
Plasma kallikrein measurement	EFO_0008260	quantification of the amount of plasma kallikrein in a sample	N/A
Plasma protein metabolism disease	MONDO_0002273	An inherited metabolic disorder that involves plasma protein metabolism malfunction.	N/A
Plasma renin activity measurement	EFO_0006828	Quantification of the activity of the enzyme renin in the blood. Renin activates the renin-angiotensin system by cleaving angiotensinogen, produced by the liver, to yield angiotensin I, which is further converted into angiotensin II by ACE, the angiotensin-converting enzyme primarily within the capillaries of the lungs.	N/A
Plasminogen activator inhibitor 1 measurement	EFO_0004792	Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis	N/A
Plasmodium falciparum antigen igg1 measurement	EFO_0007810	measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection	N/A
Plasmodium falciparum malaria	EFO_0007444	A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.;Malaria resulting from infection by Plasmodium falciparum.	Falciparum Malaria;Falciparum malaria (disorder);Falciparum malaria [malignant tertian];Malaria fever, subtertian;Malaria, Falciparum;Plasmodium falciparum malaria;Plasmodium falciparum malaria, unspecified;Plasmodium falciparum malaria, unspecified (disorder);falciparum malaria;falciparum malaria [malignant tertian];malaria fever, subtertian;malignant tertian fever;malignant tertian fever (finding)
Plasmodium vivax malaria	EFO_0007445	A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.;Malaria resulting from infection by Plasmodium vivax.	Malaria by Plasmodium vivax;Malaria, Vivax;Plasmodium vivax malaria;Vivax Malaria;Vivax malaria (disorder);Vivax malaria [benign tertian];malaria by Plasmodium vivax;vivax malaria
Platelet component distribution width	EFO_0007984	Measure of variation in platelet size.;The determination of the amount of platelet shape changes present in a sample. [ NCI ]	PCDW;Platelet Component Distribution Width Measurement;Platelet distribution width
Platelet count	EFO_0004309	The number of PLATELETS per unit volume in a sample of venous BLOOD.	blood platelet number
Platelet crit	EFO_0007985	The proportion of blood volume that is occupied by platelets, expressed as a percentage. 	PCT;platelet crit (PCT);plateletcrit;plateletcrit (PCT)
Platelet-derived growth factor bb measurement	EFO_0008264	quantification of the amount of platelet-derived growth factor BB in a sample	N/A
Pleural disease	MONDO_0002037	A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.	disease of pleura;disease or disorder of pleura;disorder of pleura;non-neoplastic pleural disease;pleura disease;pleura disease or disorder;pleural disorder;pleural disorders
Pleural mesothelioma	EFO_1000485	A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.	mesothelioma of pleura;mesothelioma of the pleura;pleura mesothelioma;pleural mesothelioma;pleural mesothelioma (disease);pleural mesothelioma (disease), benign
Pleural neoplasm	MONDO_0021065	A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.	neoplasm of pleura;neoplasm of pleural cavity;neoplasm of the pleura;pleura neoplasm;pleura neoplasm (disease);pleura tumor;pleural cavity neoplasm (disease);pleural cavity tumor;pleural neoplasm;pleural tumor;tumor of pleura;tumor of the pleura
Plexiform neurofibroma	EFO_0000658	A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH).;A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82);An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)	Elephantiasis Neuromatoses;Elephantiasis Neuromatosis;Neurofibroma, Plexiform;Neurofibromas, Plexiform;Neuroma, Plexiform;Neuromas, Plexiform;Pachydermatocele;Pachydermatoceles;Plexiform Neurofibromas;Plexiform Neuroma;Plexiform Neuromas;Plexiform neurofibroma (disorder);Plexiform neurofibroma (morphologic abnormality);Tumor Royale
Pneumococcal infection	EFO_0000772	Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.;Infections with bacteria of the species streptococcus pneumoniae.	INFECT PNEUMOCOCCAL;INFECT STREP PNEUMONIAE;Infection, Pneumococcal;Infection, Streptococcus pneumoniae;Infections, Pneumococcal;Infections, Streptococcus pneumoniae;PNEUMOCOCCAL INFECT;Pneumococcal Infections;Pneumococcal infection, NOS;Pneumococcal infectious disease (disorder);Pneumococcal infectious disease, NOS;STREP PNEUMONIAE INFECT;Streptococcus pneumoniae Infection;Streptococcus pneumoniae Infections;Streptococcus pneumoniae caused disease or disorder;Streptococcus pneumoniae disease or disorder;Streptococcus pneumoniae infectious disease;pneumococcal infection;pneumococcal infectious disease;pneumoniae Infection, Streptococcus;pneumoniae Infections, Streptococcus
Pneumococcal meningitis	EFO_1001114	An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111);An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)	Meningitis, Pneumococcal;Pneumococcal meningitis;Pneumococcal meningitis (disorder);Streptococcus pneumoniae caused infectious meningitis;Streptococcus pneumoniae infectious meningitis;pneumococcal meningitis
Pneumoconiosis	Orphanet_182098	N/A	N/A
Pneumonia	EFO_0003106	A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.;An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.	Pneumonia (disorder);Pneumonia (disorder) [Ambiguous];Pneumonia NOS;Pneumonia NOS (disorder);Pneumonia due to other specified organism;Pneumonia due to other specified organisms;Pneumonia due to other specified organisms (disorder);Pneumonitis;Pneumonitis (disorder);acute pneumonia;chest infection due to pneumonia;pneumonia;pneumonia with infectious disease
Poisoning	EFO_0008546	A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.	poisoning
Polychlorinated biphenyls measurement	EFO_0007042	quantification in a sample of some polychlorinated biphenyls, a group of man-made environmental pollutants which accumulate in humans with adverse health effects	N/A
Polycystic kidney disease	EFO_0008620	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. [ NCI ]	Fibrocystic Renal Disease;PKD - Polycystic Kidney Disease
Polycystic kidney disease	MONDO_0020642	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.	PKD - polycystic kidney disease;fibrocystic renal disease;polycystic kidney disease
Polycystic ovary syndrome	EFO_0000660	A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.;A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.	Cystic disease of ovaries;Multicystic ovaries;Ovarian Degeneration, Sclerocystic;Ovarian Syndrome, Polycystic;Ovarian Syndromes, Polycystic;Ovaries, Sclerocystic;Ovary Syndrome, Polycystic;Ovary, Sclerocystic;PCO - Polycystic ovaries;PCOD - Polycystic ovarian disease;PCOS;PCOS - Polycystic ovarian syndrome;Polycystic ovarian disease;Polycystic ovarian syndrome;Polycystic ovaries;Polycystic ovaries (disorder);Sclerocystic Ovarian Degeneration;Sclerocystic Ovaries;Sclerocystic Ovary;Sclerocystic Ovary Syndrome;Stein Leventhal Syndrome;Stein-Leventhal Syndrome;Stein-Leventhal synd.;Stein-Leventhal syndrome;Syndrome, Polycystic Ovary;Syndrome, Stein-Leventhal;multicystic ovaries;polycystic ovarian disease;polycystic ovaries;polycystic ovary;polycystic ovary syndrome
Polycythemia	EFO_0005804	Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.	Erythrocythemia;polycythemia;polycythemia (disease)
Polycythemia vera	EFO_0002429	"Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected. Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may increase as well..This is a rare disorder that occurs more often in men than in women. It is not often seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.";Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.	Osler-Vaquez disease;Osler-Vaquez syndrome;PV;Vaquez disease;acquired polycythemia vera;acquired primary erythrocytosis;polycythaemia rubra vera;polycythemia rubra vera;polycythemia vera;proliferative polycythaemia
Polyendocrinopathy	MONDO_0015126	N/A	N/A
Polymalformative genetic syndrome with increased risk of developing cancer	Orphanet_183422	Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.	PGSIRC;polymalformative genetic syndrome with increased risk of developing cancer
Polymyositis	EFO_0003063	Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.;Polymyositis (PM)("inflammation of many muscles") is a type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis.	Myositis, Multiple;PM;Polymyositis (disorder);Polymyositis Ossificans;Polymyositis, Idiopathic;multiple myositis;polymyositis
Polyneuropathy	EFO_0009562	A disease or disorder affecting more than one nerve.	polyneuropathy
Polyradiculoneuropathy	EFO_1001116	Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.;Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.	Polyradiculoneuropathy;Polyradiculoneuropathy (disorder);polyradiculoneuropathy
Postburn hypertrophic scarring severity measurement	EFO_0007747	quantification of the severity of hypertrophic scarring in burn patients, usually using the Vancouver Scar Scale (VSS) 	N/A
Posterior cerebral artery infarction	EFO_1001118	NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA).;necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).	Infarction, Posterior Cerebral Artery;posterior cerebral artery infarction
Posterior corneal dystrophy	Orphanet_98627	Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.	posterior corneal dystrophy
Posterior uveitis	EFO_1001119	Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.	Posterior Uveitis;Posterior uveitis;Posterior uveitis (disorder);Posterior uveitis NOS (disorder);Uveitis, Posterior;Uveitis, posterior NOS;chorioretinal region inflammation;inflammation of chorioretinal region;posterior uveitis;uveitis, posterior
Post-infectious disorder	MONDO_0021669	N/A	N/A
Postinfectious encephalitis	MONDO_0020068	N/A	N/A
Postmenopausal osteoporosis	EFO_0003854	Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.	Bone Loss, Perimenopausal;Bone Loss, Postmenopausal;Bone Losses, Perimenopausal;Bone Losses, Postmenopausal;Osteoporoses, Post-Menopausal;Osteoporoses, Postmenopausal;Osteoporosis, Post Menopausal;Osteoporosis, Post-Menopausal;Osteoporosis, Postmenopausal;Perimenopausal Bone Loss;Perimenopausal Bone Losses;Post-Menopausal Osteoporoses;Post-Menopausal Osteoporosis;Postmenopausal Bone Loss;Postmenopausal Bone Losses;Postmenopausal Osteoporoses;postmenopausal osteoporosis
Postprandial hyperlipidemia	EFO_0007632	elevated levels of blood lipids as a result of a high-fat meal	postprandial lipidemia
Post-viral disorder	MONDO_0021674	N/A	N/A
Prader-willi syndrome	Orphanet_739	Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.	Prader Willi syndrome;Prader-Labhart-Willi syndrome;Prader-Willi syndrome;Prader-Willi-Labhart syndrome;Willi-Prader syndrome
Precancerous condition	MONDO_0021074	A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.	precancerous condition;precancerous state;premalignant condition;premalignant state
Precursor b-cell acute lymphoblastic leukemia	MONDO_0020511	The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)	B cell acute lymphocytic leukemia;B cell precursor type acute leukemia;B-cell Acute Lymphoblastic Leukemia;B-cell acute lymphoblastic leukemia;B-cell acute lymphocytic leukemia;B-cell lymphoblastic leukemia;B-cell precursor type acute leukemia;B-cell type acute leukemia;B-precursor ALL;acute B cell lymphocytic leukemia;acute B-cell lymphocytic leukemia;precursor B-cell acute lymphoblastic leukemia/lymphoma;precursor B-cell acute lymphocytic leukemia;precursor B-cell acute lymphocytic leukemia/lymphoma;precursor B-lymphoblastic leukemia;precursor B-lymphoblastic leukemia (B-precursor ALL)
Precursor lymphoblastic lymphoma/leukemia	EFO_0009119	A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas.;A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003	Precursor Lymphoblastic Leukemia/Lymphoma;Precursor Lymphoblastic Lymphoma/Leukemia;Precursor Lymphoid Neoplasm;precursor lymphoblastic leukemia/lymphoma;precursor lymphoblastic lymphoma/leukemia;precursor lymphoid neoplasm
Precursor t-cell lymphoblastic leukemia-lymphoma	EFO_1001830	A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common.	T-ALL;precursor T-cell acute lymphoblastic leukemia;precursor T-cell acute lymphoblastic leukemia/lymphoma;precursor T-cell acute lymphocytic leukemia;precursor T-cell acute lymphocytic leukemia/lymphoma;precursor T-cell lymphoblastic leukemia;precursor T-cell lymphoblastic leukemia/lymphoma;precursor T-cell lymphoblastic lymphoma
Precursor t-lymphoblastic lymphoma/leukemia	MONDO_0003537	A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)	T lymphoblastic leukemia/lymphoma;precursor T lymphoblastic leukemia/lymphoma;precursor T lymphoblastic lymphoma/leukemia;precursor T-lymphoblastic lymphoma/leukemia
Prediabetes syndrome	EFO_1001121	A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.;The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2).	Prediabetes;Prediabetic State;borderline diabetes;prediabetes;prediabetes syndrome;prediabetic state
Predominantly large-vessel vasculitis	MONDO_0015488	N/A	N/A
Predominantly medium-vessel vasculitis	MONDO_0015489	N/A	N/A
Predominantly small-vessel vasculitis	MONDO_0015490	N/A	N/A
Preeclampsia	EFO_0000668	A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.;A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.;Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.	EPH - Edema, proteinuria and hypertension of pregnancy;EPH - Oedema, proteinuria and hypertension of pregnancy;EPH Complex;EPH Gestosis;EPH Toxemia;EPH Toxemias;Edema Proteinuria Hypertension Gestosis;Edema-Proteinuria-Hypertension Gestosis;Gestational hypertension;Gestational hypertension (disorder);Gestosis, EPH;Gestosis, Edema-Proteinuria-Hypertension;Gestosis, Hypertension-Edema-Proteinuria;Gestosis, Proteinuria-Edema-Hypertension;Hypertension Edema Proteinuria Gestosis;Hypertension-Edema-Proteinuria Gestosis;PE - Pre-eclampsia;PET - Pre-eclamptic toxaemia;PET - Pre-eclamptic toxemia;PREECLAMPSIA/ECLAMPSIA;PREGN TOXEMIAS;Pre Eclampsia;Pre-Eclampsia;Pre-eclampsia (disorder);Pre-eclampsia NOS;Pre-eclampsia NOS (disorder);Pre-eclampsia, unspecified;Pre-eclamptic NOS;Pre-eclamptic toxaemia;Pre-eclamptic toxemia;Pregnancy Toxemia;Pregnancy Toxemias;Pregnancy associated hypertension;Pregnancy-induced hypertension (disorder);Proteinuria Edema Hypertension Gestosis;Proteinuria-Edema-Hypertension Gestosis;Proteinuric hypertension of pregnancy;Toxaemia NOS;Toxaemia of pregnancy;Toxaemia of pregnancy, NOS;Toxemia;Toxemia NOS;Toxemia NOS (disorder);Toxemia of Pregnancy;Toxemia of pregnancy (disorder);Toxemia of pregnancy, NOS;Toxemia, EPH;Toxemia, Pregnancy;Toxemias, EPH;Toxemias, Pregnancy;gestational hypertension;hypertension induced by pregnancy;hypertension of preg.;hypertension of pregnancy NOS;hypertension of pregnancy NOS (disorder);pre-eclampsia;pre-eclamptic toxaemia;preeclampsia;preeclampsia/eclampsia;pregnancy associated hypertension;pregnancy toxemia;proteinuric hypertension of pregnancy;toxaemia of pregnancy
Pregnancy disorder	EFO_0009682	A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.;A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. [database_cross_reference: NCIT:C35169]	complication of pregnancy or childbirth;disorder of pregnancy;disorder of pregnancy, childbirth, or puerperium;pregnancy disease;pregnancy disorder
Primary adrenal insufficiency	MONDO_0015128	A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.	N/A
Primary aldosteronism	MONDO_0001422	An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.	Conn syndrome;Conn's syndrome;primary aldosteronism;primary hyperaldosteronism
Primary angle closure glaucoma	EFO_1001506	A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause. Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis.;The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.	angle closure glaucoma;closed angle glaucoma;primary angle closure glaucoma;primary angle-closure glaucoma
Primary bacterial infectious disease	MONDO_0000314	N/A	N/A
Primary biliary cirrhosis	EFO_1001486	An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood.;Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.	Hanot syndrome;PBC;biliary liver cirrhosis;cholestatic cirrhosis;chronic non-suppurative destructive cholangitis;chronic nonsuppurative destructive cholangitis;primary Bilary cirrhosis (PBC);primary biliary cholangitis;primary biliary cirrhosis
Primary bone dysplasia	Orphanet_364526	N/A	Primary osteodysplasia;Primary skeletal dysplasia;primary bone dysplasia;primary osteodysplasia;primary skeletal dysplasia
Primary bone dysplasia with decreased bone density	Orphanet_93446	N/A	Primary osteodysplasia with decreased bone density;Primary skeletal dysplasia with decreased bone density;primary bone dysplasia with decreased bone density;primary osteodysplasia with decreased bone density;primary skeletal dysplasia with decreased bone density
Primary bone dysplasia with defective bone mineralization	Orphanet_93447	N/A	Primary osteodysplasia with defective bone mineralization;Primary skeletal dysplasia with defective bone mineralization;primary bone dysplasia with defective bone mineralization;primary osteodysplasia with defective bone mineralization;primary skeletal dysplasia with defective bone mineralization
Primary bone dysplasia with increased bone density	Orphanet_93444	N/A	Primary osteodysplasia with increased bone density;Primary skeletal dysplasia with increased bone density;primary bone dysplasia with increased bone density;primary osteodysplasia with increased bone density;primary skeletal dysplasia with increased bone density;sclerosing bone dysplasia
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	Orphanet_364531	N/A	Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments;Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments;primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments;primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments;primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary bone lymphoma	MONDO_0017814	A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.	bone tissue lymphoma;lymphoma of bone;lymphoma of bone tissue;lymphoma of the bone;primary lymphoma of bone;primary lymphoma of the bone
Primary cutaneous lymphoma	MONDO_0018898	Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.	cutaneous (skin) lymphoma;primary cutaneous lymphoma;primary skin lymphoma
Primary cutaneous t-cell lymphoma	MONDO_0015758	N/A	N/A
Primary effusion lymphoma	EFO_1000491	An aggressive non-Hodgkin B-cell lymphoma composed of large cells, presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV-8)/Kaposi sarcoma herpes virus (KSHV) [HHV-8/KSHV]. It mostly occurs in the setting of immunodeficiency; most cases have been reported in HIV positive patients. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. The prognosis is extremely unfavorable.;Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).	PEL;body cavity-based lymphoma;primary Effusion Lymphoma;primary effusion lymphoma
Primary glomerular disease	Orphanet_102373	N/A	primary glomerular disease
Primary hemophagocytic lymphohistiocytosis	Orphanet_158038	N/A	Genetic hemophagocytic lymphohistiocytosis
Primary hyperparathyroidism (disease)	MONDO_0010837	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.	familial benign hypercalcemia;familial primary hyperparathyroidism;primary hyperparathyroidism
Primary hypertension	EFO_1002032	Hypertension that presents without an identifiable cause.	essential hypertension;idiopathic hypertension
Primary immunodeficiency disease	DOID_612	An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.	hypoimmunity;immune deficiency disorder;immunodeficiency syndrome
Primary immunodeficiency disease	MONDO_0003778	A disorder in which the immune system is unable to mount an adequate immune response.	hypoimmunity;immune deficiency disorder;immunodeficiency syndrome
Primary immunodeficiency due to a defect in adaptive immunity	Orphanet_179006	N/A	primary immunodeficiency due to a defect in adaptive immunity
Primary immunodeficiency due to a defect in innate immunity	Orphanet_101988	N/A	primary immunodeficiency due to a genetic defect in innate immunity
Primary immunodeficiency	Orphanet_101997	N/A	N/A
Primary interstitial lung disease specific to adulthood	MONDO_0017027	N/A	primary ILD specific to adulthood
Primary interstitial lung disease specific to childhood	MONDO_0017015	N/A	primary ILD specific to childhood;primary interstitial lung disease specific to childhood
Primary lymphedema	Orphanet_77240	Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.	Troncular lymphatic malformation
Primary myelofibrosis	EFO_0002430	Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.;Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.	AMM;Agnogenic myeloid metaplasia;CIMF;aleukemic myelosis;bone marrow fibrosis;chronic idiopathic myelofibrosis;idiopathic bone marrow fibrosis;idiopathic myelofibrosis;megakaryocytic myelosclerosis;myelofibrosis with myeloid metaplasia;myelosclerosis;myelosclerosis with myeloid metaplasia;osteomyelofibrosis;primary myelofibrosis
Primary organ-specific lymphoma	MONDO_0017207	N/A	N/A
Primary orthostatic hypotension	MONDO_0015914	P rimary orthostatic hypotension is a rare type of orthostatic hypotension . It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system , such as multiple system atrophy , young-onset Parkinson's disease , pure autonomic failure , dopamine beta-hydroxylase deficiency , familial dysautonomia , and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.	N/A
Primary ovarian insufficiency	EFO_0004266	Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.;Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections.	hypergonadotropic hypogonadism;hypergonadotropic hypogonadism (female);premature ovarian failure;primary ovarian failure;primary ovarian insufficiency;resistant ovary syndrome
Primary pulmonary hypertension	MONDO_0001999	Increased blood pressure in the arteries of the lungs; the etiology is unknown.	pulmonary hypertension, primary
Primary short bowel syndrome	Orphanet_365563	N/A	primary short bowel syndrome
Primary thrombocytopenia	MONDO_0004680	N/A	N/A
Primitive neuroectodermal tumor	EFO_0005235	A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.;Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults.	PNET;malignant primitive neuroectodermal tumor;neuroectodermal neoplasm;neuroectodermal tumor;primitive neuroectodermal neoplasm;primitive neuroectodermal tumor;primitive neuroectodermal tumor (PNET)
Prion disease	EFO_0004720	A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83);A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.	prion disease;prion disease pathway;prion induced disorder;prion protein disease;spongiform encephalopathy;transmissible spongiform encephalopathy
Progesterone-receptor negative breast cancer	EFO_0009781	A subtype of breast cancer that is progesterone-receptor negative.	progesterone-receptor negative breast cancer
Progranulin measurement	EFO_0004625	A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease	progranulin levels
Progressive cone dystrophy	Orphanet_1871	N/A	Cone dystrophy
Progressive epilepsy and/or ataxia with myoclonus as a major feature	Orphanet_306762	N/A	progressive epilepsy and/or ataxia with myoclonus as a major feature
Progressive multifocal leukoencephalopathy	EFO_0007455	A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.;Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain . It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).	Leukoencephalopathy, Progressive Multifocal;PML;progressive multifocal leukoencephalitis;progressive multifocal leukoencephalopathy
Progressive muscular dystrophy	Orphanet_206644	N/A	progressive muscular dystrophy
Progressive myoclonic epilepsy	Orphanet_98261	N/A	PME;Progressive myoclonus epilepsy
Progressive supranuclear palsy	Orphanet_683	Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.	PSP syndrome
Prolactinoma	DOID_5394	N/A	PITUITARY ADENOMA, PROLACTIN-SECRETING;Prolactinoma of Pituitary gland;familial prolactinoma
Prolactin-producing pituitary gland adenoma	EFO_1000496	An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances.;Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.	PRL producing pituitary gland adenoma;PRL-secreting pituitary adenoma;PRLoma;familial prolactinoma;lactotrope adenoma;lactotroph adenoma;lactotroph cell adenoma;pituitary adenoma, prolactin-secreting;pituitary gland prolactinoma;pituitary lactotrophic adenoma;pituitary prolactinoma;prolactin producing adenoma of pituitary;prolactin producing adenoma of pituitary gland;prolactin producing adenoma of the pituitary;prolactin producing adenoma of the pituitary gland;prolactin producing pituitary adenoma;prolactin producing pituitary gland adenoma;prolactin secreting adenoma;prolactin secreting adenoma of pituitary;prolactin secreting adenoma of pituitary gland;prolactin secreting adenoma of the pituitary;prolactin secreting adenoma of the pituitary gland;prolactin secreting pituitary adenoma;prolactin secreting pituitary gland adenoma;prolactin-producing pituitary gland adenoma;prolactin-secreting pituitary adenoma;prolactinoma;prolactinoma of pituitary;prolactinoma of pituitary gland;prolactinoma of the pituitary;prolactinoma of the pituitary gland
Prolactin producing pituitary tumor	MONDO_0003430	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.	PRL producing pituitary gland neoplasm;malignant prolactin producing neoplasm of pituitary gland;malignant prolactinoma;prolactin producing neoplasm of pituitary;prolactin producing neoplasm of pituitary gland;prolactin producing neoplasm of the pituitary;prolactin producing neoplasm of the pituitary gland;prolactin producing pituitary gland neoplasm;prolactin producing pituitary gland tumor;prolactin producing pituitary neoplasm;prolactin producing pituitary tumor;prolactin producing pituitary tumour;prolactin producing tumor of pituitary;prolactin producing tumor of pituitary gland;prolactin producing tumor of the pituitary;prolactin producing tumor of the pituitary gland;prolactin secreting neoplasm of pituitary;prolactin secreting neoplasm of pituitary gland;prolactin secreting neoplasm of the pituitary;prolactin secreting neoplasm of the pituitary gland;prolactin secreting pituitary gland neoplasm;prolactin secreting pituitary gland tumor;prolactin secreting pituitary neoplasm;prolactin secreting pituitary tumor;prolactin secreting tumor of pituitary;prolactin secreting tumor of pituitary gland;prolactin secreting tumor of the pituitary;prolactin secreting tumor of the pituitary gland;prolactin-producing pituitary gland carcinoma;prolactin-producing pituitary gland neoplasm;prolactin-producing pituitary gland tumor
Proliferative diabetic retinopathy	EFO_0009322	Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.;Later stage of diabetic retinopathy, characterized by neovascularisation of the retina	PDR;proliferative diabetic retinopathy
Proliferative vitreoretinopathy	EFO_1001129	Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.	Retinitis proliferans;Vitreoretinopathy, Proliferative;proliferative vitreoretinopathy;retinitis proliferans
Prolymphocytic leukemia	MONDO_0001023	A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.	PLL;prolymphocytic leukemia;prolymphocytic leukemia (B or T);prolymphocytic leukemia (B or T-cell)
Properdin measurement	EFO_0008269	quantification of the amount of properdin in a sample	N/A
Prostate adenocarcinoma	EFO_0000673	A carcinoma that arises from glandular epithelial cells of the prostate gland;An adenocarcinoma arising from the prostate gland.  It is one of the most common malignant tumors afflicting men.  The majority of adenocarcinomas arise in the peripheral zone and a minority occurs in the central or the transitional zone of the prostate gland.  Grading of prostatic adenocarcinoma predicts disease progression and correlates with survival.  Several grading systems have been proposed, of which the Gleason system is the most commonly used.  Gleason sums of 2 to 4 represent well-differentiated disease, 5 to 7 moderately differentiated disease and 8 to 10 poorly differentiated disease.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic adenocarcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.;Tumors or cancer of the PROSTATE.	Adenocarcinoma of prostate (disorder);Adenocarcinoma of the Prostate;Cancer of Prostate;Cancer of the Prostate;Cancer, Prostate;Cancer, Prostatic;Cancers, Prostate;Cancers, Prostatic;NEOPL PROSTATE;NEOPL PROSTATIC;Neoplasm, Prostate;Neoplasm, Prostatic;Neoplasms, Prostate;Neoplasms, Prostatic;PROSTATE NEOPL;PROSTATIC NEOPL;Prostate Cancer;Prostate Cancers;Prostate Neoplasm;Prostate Neoplasms;Prostatic Cancer;Prostatic Cancers;Prostatic Neoplasm;Prostatic Neoplasms;adenocarcinoma of prostate;adenocarcinoma of the prostate;prostate adenocarcinoma;prostate gland adenocarcinoma
Prostate cancer	MONDO_0008315	A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.	NGP - new growth of prostate;cancer of prostate gland;malignant neoplasm of prostate;malignant neoplasm of prostate gland;malignant neoplasm of the prostate;malignant prostate gland neoplasm;malignant prostate neoplasm;malignant prostate tumor;malignant tumor of prostate;malignant tumor of the prostate;prostate cancer;prostate cancer, familial;prostate gland cancer;prostatic cancer
Prostate carcinoma	EFO_0001663	A carcinoma that arises from epithelial cells of the prostate gland.;One of the most common malignant tumors afflicting men.  The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland.  Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes.  Adenocarcinomas represent the overwhelming majority of prostatic carcinomas.  Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma.  Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy.  Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.  -- 2002	Carcinoma of Prostate;Carcinoma of the Prostate;carcinoma of prostate;carcinoma of prostate gland;carcinoma of the prostate;prostate carcinoma;prostate gland carcinoma
Prostate disease	EFO_0009602	A disease involving the prostate gland.;A disease involving the prostate gland. [ MONDO:DesignPattern ]	disease of prostate gland;disease or disorder of prostate gland;disorder of prostate gland;prostate disease;prostate disorder;prostate gland disease;prostate gland disease or disorder
Prostate neoplasm	MONDO_0021259	A neoplasm (disease) that involves the prostate gland.	neoplasm of prostate;neoplasm of prostate gland;neoplasm of the prostate;prostate gland neoplasm;prostate gland neoplasm (disease);prostate gland tumor;prostate tumor;tumor of prostate;tumor of prostate gland;tumor of the prostate
Prostate neuroendocrine neoplasm	MONDO_0002477	A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.	neuroendocrine neoplasm of prostate;neuroendocrine neoplasm of prostate gland;neuroendocrine neoplasm of the prostate;neuroendocrine tumor of the prostate;prostate gland NET;prostate gland neuroendocrine neoplasm;prostate gland neuroendocrine tumor;prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade;prostate neuroendocrine neoplasm
Prostate specific antigen measurement	EFO_0004624	A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer.	PSA levels;PSA measurement;prostate specific antigen levels
Protein c measurement	EFO_0004633	Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals.	coagulation factor XIV
Protein measurement	EFO_0004747	Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process.;This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term.	protein levels
Proteinuria	HP_0000093	Increased levels of protein in the urine.	High urine protein levels;Protein in urine
Proteostasis deficiencies	MONDO_0021179	Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.	Proteostasis deficiency;Proteostasis dysfunction;Proteostasis dysfunctions;deficiencies, Proteostasis;deficiency, Proteostasis;dysfunction, Proteostasis;dysfunctions, Proteostasis
Proto-oncogene tyrosine-protein kinase receptor ret measurement	EFO_0008272	quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample	N/A
Protozoa infectious disease	MONDO_0002428	An infection that is caused by protozoans.	protozoal infection
P-selectin measurement	EFO_0008254	quantification of the amount of P-Selectin in a sample	N/A
Pseudohypoparathyroidism	Orphanet_97593	Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).	pseudohypoparathyroidism
Pseudohypoparathyroidism type 1b	Orphanet_94089	Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.	pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism without albright hereditary osteodystrophy	MONDO_0018700	N/A	N/A
Pseudorabies	EFO_0007457	A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle.;A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.	Aujeszky's disease;Pseudorabies;mad itch;pseudorabies
Psoriasis	EFO_0000676	A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.;An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.	OTHER PSORIASIS;Other and unspecified pityriasis;Other psoriasis and similar disorders;Other psoriasis and similar disorders (disorder);Other psoriasis and similar disorders excluding psoriatic arthropathy;PITYRIASIS NEC & NOS;PSORIAS RELATED DIS NEC;PUSTULAR PSORIASIS OF PALMS SOLES;PUSTULOSIS OF PALMS SOLES;Palmoplantaris Pustulosis;Psoriases;Psoriasis and similar disorders;Psoriasis and similar disorders (disorder);Psoriasis and similar disorders (navigational concept);Psoriasis and similar disorders NOS;Psoriasis and similar disorders NOS (disorder);Pustular Psoriasis of Palms and Soles;Pustulosis Palmaris et Plantaris;Pustulosis of Palms and Soles;psoriasis
Psoriatic arthritis	EFO_0003778	A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.;Joint inflammation associated with psoriasis.	Arthritic Psoriasis;Arthritis, Psoriatic;Psoriasis Arthropathica;Psoriasis, Arthritic;arthritis psoriatica;arthropathic psoriasis;psoriatic arthritis
Psychiatric disorder	MONDO_0002025	A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.	Psychiatric disease;Psychiatric disorder;disease of mental health;mental disorder;mental dysfunction;mental illness
Psychosis	EFO_0005407	A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor.;An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.	psychosis;psychotic disorder
Psychosis predisposition measurement	EFO_0008337	quantification of the level of an individual's predisposition of a psychotic disorder, based on a range of psychometric measures such as Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapman’s Schizotypia scales), and Schizoidia scales. 	N/A
Psychotic symptoms	EFO_0005940	symptoms of psychosis and altered mental status experienced as a result of drug consumption or as a result of a mental or behavioural disorder such as schizophrenia or bipolar disorder	N/A
Pten hamartoma tumor syndrome	Orphanet_306498	PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.	PHTS
Pterygium	EFO_0000678	A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.;An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)	Conjunctival Pterygium;Pterygium (disorder);Pterygium NOS;Pterygium NOS (disorder);Pterygium, NOS;Pterygium, unspecified;Pterygiums;Unspecified pterygium;Unspecified pterygium (disorder);Web eye;pterygium;pterygium of conjunctiva and cornea;surfer's eye
Pulmonary arterial hypertension	EFO_0001361	A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA.;Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.;Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).	Ayerza Arrilaga Syndrome;Ayerza Syndrome;Ayerza's Syndrome;Ayerza-Arrilaga Syndrome;Ayerzas Syndrome;HYPERTENSION PULM;Hypertension, Pulmonary;PAH;PHT - Pulmonary hypertension;PULM HYPERTENSION;Pulmonary hypertension, NOS;Syndrome, Ayerza;Syndrome, Ayerza-Arrilaga;pulmonary arterial hypertension;pulmonary hypertension;pulmonary hypertension (disorder)
Pulmonary embolism	EFO_0003827	Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.;The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.	EMBOLISM PULM;EMBOLISMS PULM;Embolism, Pulmonary;Embolisms, Pulmonary;PULM EMBOLISM;PULM EMBOLISMS;PULM THROMBOEMBOLISM;PULM THROMBOEMBOLISMS;Pulmonary Embolisms;Pulmonary Thromboembolism;Pulmonary Thromboembolisms;THROMBOEMBOLISMS PULM;Thromboembolism, Pulmonary;Thromboembolisms, Pulmonary;embolism, pulmonary;pulmonary artery embolism;pulmonary embolism;pulmonary embolism (disease);pulmonary embolus
Pulmonary fibrosis	EFO_0009448	Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).	fibrosis of lung;pulmonary fibrosis;pulmonary interstitial fibrosis
Pulmonary function measurement	EFO_0003892	Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.	FUNCTION TEST PULM;FUNCTION TESTS PULM;Function Test, Lung;Function Test, Pulmonary;Function Test, Respiratory;Function Tests, Lung;Function Tests, Pulmonary;Function Tests, Respiratory;Lung Function Test;Lung Function Tests;PULM FUNCTION TEST;PULM FUNCTION TESTS;Pulmonary Function Tests;Respiratory Function Test;Respiratory Function Tests;TEST PULM FUNCTION;TESTS PULM FUNCTION;Test, Lung Function;Test, Pulmonary Function;Test, Respiratory Function;Tests, Lung Function;Tests, Pulmonary Function;Tests, Respiratory Function;pulmonary function test
Pulmonary hypertension	MONDO_0005149	Increased pressure within the pulmonary circulation due to lung or heart disorder.	N/A
Pulmonary neuroendocrine tumor	EFO_0005220	A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.	Lung Neuroendocrine Neoplasm;Neuroendocrine Neoplasm of Lung;Neuroendocrine Neoplasm of the Lung;Pulmonary Neuroendocrine Neoplasm;lung NET;lung neuroendocrine neoplasm;lung neuroendocrine tumor;lung neuroendocrine tumor, well differentiated, low or intermediate grade;neuroendocrine neoplasm of lung;neuroendocrine neoplasm of the lung;pulmonary neuroendocrine neoplasm
Pulmonary sarcoidosis	DOID_13406	Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.	Sarcoidosis, Pulmonary;lung Sarcoidosis;lung sarcoidosis;pulmonary sarcoidosis;sarcoidosis of lung
Pulmonary tuberculosis	EFO_1000049	A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss;A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.	Tuberculosis, Pulmonary;lung TB;lung tuberculosis;pulmonary TB;pulmonary tuberculosis
Pulmonary vascular congestion	EFO_0009866	Obstruction of the normal flux of blood within the blood vessel network of the lung resulting in engorgement of pulmonary vessels; frequently precedes pulmonary edema.	PVC;congested lung vasculature;lung vascular congestion;pulmonary congestion
Pulse pressure measurement	EFO_0005763	quantification of the difference between systolic blood pressure and diastolic blood pressure. Higher PP is associated with left ventricle hypertrophy and the increased intimal thickness of the carotid artery, which represent early target organ damage in cardiovascular diseases	N/A
Purine metabolism disease	MONDO_0037829	A disease that has its basis in the disruption of purine nucleobase metabolic process.	disorder of purine metabolism;disorder of purine nucleobase metabolic process;purine nucleobase metabolic process disease
Purpura (disease)	MONDO_0002610	A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.	purpura;purpuric disorder
Pursuit maintenance gain measurement	EFO_0008433	Quantification of the accuracy of matching eye velocity to target velocity during sustained pursuit, typically measured using a video-based eye tracker. Abnormalities of this system have been observed in psychiatric disoreders such as aschizophrenia.	N/A
Pyloric stenosis	EFO_0009626	Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.;Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. [ NCIT:C34966 ]	GOO;gastric outflow obstruction;gastric outlet obstruction;pyloric stenosis;pyloric stenosis (disease)
Qrs duration	EFO_0005055	QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle	QRS interval
Qt interval	EFO_0004682	The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle	N/A
Qualitative or quantitative defects of calpain	Orphanet_207104	N/A	qualitative or quantitative defects of calpain
Qualitative or quantitative defects of dysferlin	Orphanet_207073	N/A	Dysferlinopathy
Qualitative or quantitative defects of dystrophin	Orphanet_207085	N/A	Dystrophinopathy
Qualitative or quantitative protein defects in neuromuscular diseases	Orphanet_207049	N/A	qualitative or quantitative protein defects in neuromuscular diseases
Quantitative and/or qualitative congenital phagocyte defect	MONDO_0015133	N/A	N/A
Radiation or chemically induced disorder	MONDO_0045028	A disease or disorder that is induced by either chemical or radiation exposure.	N/A
Radiculopathy	DOID_4306	N/A	nerve root disorder
Radius bone mineral density	EFO_0007933	mineral density of the radial bone	N/A
Rapidly progressive glomerulonephritis	Orphanet_280569	N/A	Crescentic glomerulonephritis;RPGN
Rare bone disease related to a common gene or pathway defect	Orphanet_364803	N/A	rare bone disease related to a common gene or pathway defect
Rare bronchopulmonary tumor	MONDO_0015119	N/A	N/A
Rare cataract	Orphanet_98640	N/A	N/A
Rare cause of hypertension	MONDO_0019748	N/A	N/A
Rare conjunctival disease	Orphanet_98610	N/A	N/A
Rare constitutional anemia	Orphanet_183651	N/A	N/A
Rare constitutional aplastic anemia	Orphanet_68383	N/A	N/A
Rare developmental defect with connective tissue involvement	Orphanet_139030	N/A	N/A
Rare disease involving intestinal motility	Orphanet_104009	N/A	N/A
Rare disease with autism	Orphanet_180772	N/A	rare disease with autism
Rare disease with myoclonus as a major feature	MONDO_0017652	N/A	N/A
Rare disease with odontological manifestation	MONDO_0020014	N/A	N/A
Rare disease with pierre robin syndrome	MONDO_0015319	N/A	N/A
Rare disease with thoracic aortic aneurysm and aortic dissection	Orphanet_285014	N/A	rare disease with thoracic aortic aneurysm and aortic dissection
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Orphanet_399846	N/A	rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Rare disorder with hypergonadotropic hypogonadism	Orphanet_181441	N/A	Rare disorder with primary hypogonadism
Rare disorder with hypogonadotropic hypogonadism	Orphanet_181387	N/A	Rare disorder with secondary hypogonadism
Rare disorder with ptosis	MONDO_0020169	N/A	N/A
Rare disorder with ptosis	Orphanet_98578	N/A	N/A
Rare dyslipidemia	Orphanet_101953	N/A	N/A
Rare endocrine growth disease	MONDO_0019590	N/A	N/A
Rare epidermal disease	MONDO_0019268	N/A	N/A
Rare epithelial tumor of liver and intrahepatic biliary tract	MONDO_0018530	N/A	rare epithelial tumor of liver and IBT
Rare epithelial tumor of pancreas	MONDO_0018520	N/A	rare pancreatic epithelial tumor
Rare eyebrow/eyelashes anomaly	Orphanet_98594	N/A	rare eyebrow/eyelashes anomaly
Rare familial disorder with hypertrophic cardiomyopathy	Orphanet_99739	N/A	Rare familial disorder with hypertrophic obstructive cardiomyopathy;Rare familial disorder with hypertrophic subaortic stenosis;rare familial disorder with hypertrophic cardiomyopathy;rare familial disorder with hypertrophic obstructive cardiomyopathy;rare familial disorder with hypertrophic subaortic stenosis
Rare female infertility due to a congenital hypogonadotropic hypogonadism	Orphanet_399839	N/A	N/A
Rare female infertility due to an anomaly of ovarian function of genetic origin	Orphanet_400022	N/A	N/A
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Orphanet_400011	N/A	Rare female infertility due to gonadotropic axis disorder of genetic origin;Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare gastroesophageal tumor	MONDO_0015881	N/A	N/A
Rare genetic adrenal disease	Orphanet_183637	N/A	N/A
Rare genetic bone development disorder	Orphanet_404584	N/A	Rare genetic skeletal development disorder;rare genetic bone development disorder;rare genetic skeletal development disorder
Rare genetic bone disease	Orphanet_183524	N/A	N/A
Rare genetic cardiac disease	Orphanet_98054	N/A	N/A
Rare genetic coagulation disorder	Orphanet_183654	N/A	N/A
Rare genetic deafness	Orphanet_96210	N/A	N/A
Rare genetic developmental defect during embryogenesis	Orphanet_183530	N/A	N/A
Rare genetic diabetes mellitus	Orphanet_183625	N/A	N/A
Rare genetic disease with myoclonus as a major feature	Orphanet_307067	N/A	rare genetic disease with myoclonus as a major feature
Rare genetic disorder with obstructive azoospermia	Orphanet_400003	N/A	Rare genetic disorder due to impaired sperm transport;rare genetic disorder due to impaired sperm transport;rare genetic disorder with obstructive azoospermia
Rare genetic dystonia	Orphanet_391799	N/A	Rare genetic dystonic disorder
Rare genetic endocrine disease	Orphanet_156638	N/A	N/A
Rare genetic epilepsy	Orphanet_183512	N/A	N/A
Rare genetic eye disease	Orphanet_101435	N/A	Rare genetic ophthalmologic disease
Rare genetic female infertility	Orphanet_400008	N/A	N/A
Rare genetic gastroenterological disease	Orphanet_165652	N/A	N/A
Rare genetic gynecological and obstetrical diseases	Orphanet_183731	N/A	N/A
Rare genetic hematologic disease	Orphanet_158300	N/A	N/A
Rare genetic hepatic disease	Orphanet_156601	N/A	N/A
Rare genetic hypothalamic or pituitary disease	Orphanet_183628	N/A	rare genetic hypothalamic or pituitary disease
Rare genetic immune disease	Orphanet_183770	N/A	N/A
Rare genetic intellectual disability	Orphanet_183757	N/A	N/A
Rare genetic male infertility	Orphanet_399980	N/A	N/A
Rare genetic movement disorder	Orphanet_183521	N/A	N/A
Rare genetic myoclonus	Orphanet_307064	N/A	N/A
Rare genetic neurological disorder	Orphanet_71859	N/A	N/A
Rare genetic odontal or periodontal disorder	MONDO_0018488	N/A	N/A
Rare genetic odontologic disease	Orphanet_77830	N/A	rare genetic odontologic disease
Rare genetic palpebral, lacrimal system and conjunctival disease	Orphanet_183598	N/A	rare genetic palpebral, lacrimal system and conjunctival disease
Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Orphanet_183634	N/A	rare genetic parathyroid disease and phosphocalcic metabolism disorder
Rare genetic refraction anomaly	Orphanet_183601	N/A	rare genetic refraction anomaly
Rare genetic renal disease	Orphanet_98056	N/A	N/A
Rare genetic respiratory disease	Orphanet_156610	N/A	N/A
Rare genetic skin disease	Orphanet_68346	N/A	Rare genodermatosis
Rare genetic syndromic intellectual disability	Orphanet_183763	N/A	N/A
Rare genetic systemic or rheumatologic disease	Orphanet_271870	N/A	N/A
Rare genetic tremor disorder	Orphanet_307061	N/A	N/A
Rare genetic tumor	Orphanet_68336	N/A	N/A
Rare genetic urogenital disease	Orphanet_156619	N/A	N/A
Rare genetic vascular disease	Orphanet_233655	N/A	N/A
Rare gynecologic or obstetric disease	MONDO_0019937	N/A	N/A
Rare head and neck malformation	MONDO_0015475	N/A	N/A
Rare hematologic disease	MONDO_0020006	N/A	N/A
Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Orphanet_68334	N/A	Rare bleeding disorder due to a constitutional coagulation factors defect;Rare coagulopathy due to a constitutional coagulation factors defect;rare bleeding disorder due to a constitutional coagulation factors defect;rare coagulopathy due to a constitutional coagulation factors defect;rare hemorrhagic disorder due to a constitutional coagulation factors defect
Rare hereditary ataxia	Orphanet_183518	N/A	N/A
Rare hereditary disease with avascular necrosis	Orphanet_399185	N/A	rare hereditary disease with avascular necrosis
Rare hereditary disease with peripheral neuropathy	Orphanet_207015	N/A	rare hereditary disease with peripheral neuropathy
Rare hereditary metabolic disease with peripheral neuropathy	Orphanet_207018	N/A	rare hereditary metabolic disease with peripheral neuropathy
Rare hereditary neurologic disease with peripheral neuropathy	Orphanet_207025	N/A	rare hereditary neurologic disease with peripheral neuropathy
Rare hyperlipidemia	Orphanet_181422	N/A	N/A
Rare hypothalamic or pituitary disease	MONDO_0015889	N/A	N/A
Rare inborn errors of metabolism	Orphanet_68367	N/A	Rare metabolic disease
Rare inflammatory eye disease	MONDO_0015937	N/A	N/A
Rare insulin-resistance syndrome	Orphanet_181368	N/A	N/A
Rare lacrimal system disease	Orphanet_98602	N/A	N/A
Rare lymphatic system malformation	MONDO_0016233	N/A	N/A
Rare male fertility disorder with obstructive azoospermia	MONDO_0018396	N/A	rare disorder due to impaired sperm transport
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	MONDO_0018386	N/A	rare male infertility due to gonadotropic axis disorder;rare male infertility due to hypothalamic-pituitary-testicular axis disorder
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Orphanet_399983	N/A	Rare male infertility due to gonadotropic axis disorder of genetic origin;Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare male infertility due to testicular endocrine disorder	Orphanet_399685	N/A	rare male infertility due to testicular endocrine disorder
Rare maxillo-facial surgical disease	MONDO_0019038	N/A	rare maxillofacial anomaly
Rare metabolic liver disease	Orphanet_101940	N/A	N/A
Rare neuroinflammatory or neuroimmunological disease	MONDO_0015916	N/A	N/A
Rare neurologic disease with psychiatric involvement	MONDO_0020016	N/A	N/A
Rare odontal or periodontal disorder	Orphanet_164001	N/A	rare odontal or periodontal disorder
Rare odontologic disease	MONDO_0020013	N/A	N/A
Rare otorhinolaryngological malformation	Orphanet_96333	N/A	rare otorhinolaryngological malformation
Rare otorhinolaryngologic tumor	MONDO_0020035	N/A	rare ORL cancer;rare ORL neoplasm;rare ORL tumor
Rare palpebral disease	Orphanet_98560	N/A	N/A
Rare palpebral, lacrimal system and conjunctival disease	MONDO_0020150	N/A	N/A
Rare pervasive developmental disorder	Orphanet_168778	N/A	Rare autism spectrum disorder
Rare pulmonary disease	MONDO_0015118	N/A	N/A
Rare refraction anomaly	MONDO_0020206	N/A	N/A
Rare renal tubular disease	MONDO_0019744	Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction.	disease of renal tubule;renal tubule disease
Rare strabismus and restriction syndrome	Orphanet_98681	N/A	rare strabismus and restriction syndrome
Rare syndrome with cardiac malformations	Orphanet_156532	N/A	rare syndrome with cardiac malformations
Rare syndromic dyslipidemia	Orphanet_181437	N/A	N/A
Rare teratologic disease	MONDO_0018880	N/A	acquired embryofetopathy
Rare thrombotic disease of hematologic origin	MONDO_0015913	N/A	N/A
Rare thrombotic disorder due to a constitutional platelet anomaly	Orphanet_248401	N/A	thrombotic disorder due to a constitutional platelet anomaly
Rare tumor of gallbladder and extrahepatic biliary tract	MONDO_0017631	N/A	rare tumor of gallbladder and EBT
Rasopathy	EFO_1001502	Developmental syndrome caused by germline mutations in genes that alter the RAS subfamily and mitogen-activated protein kinases that control signal transduction. Known rasopathies include Noonan syndrome, LEOPARD syndrome, Colstello syndrome, neurofibromatosis type 1 and autoimmune lymphoproliferative syndrome;The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.	RASopathy;Ras protein signal transduction disease;disorder of Ras protein signal transduction
Ravine syndrome	Orphanet_99852	Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	Progressive encephalopathy with severe infantile anorexia;Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
Reactive cutaneous fibrous lesion	EFO_1000759	A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.	reactive cutaneous fibrous lesion
Reading and spelling ability	EFO_0005301	reading and spelling ability refers to the complex cognitive processes involved in assembling and decoding symbols in order to construct or derive words	N/A
Reasoning	EFO_0004350	Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition.	N/A
Recombination measurement	EFO_0005919	quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate	N/A
Recombination rate	EFO_0004863	Is the genome wide recombination rate.	N/A
Rectal adenocarcinoma	EFO_0005631	An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.;An adenocarcinoma of the rectum. 	adenocarcinoma - rectum;adenocarcinoma of rectum;adenocarcinoma of the rectum;rectal adenocarcinoma;rectum adenocarcinoma
Rectal carcinoma	MONDO_0044937	A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	cancer of rectum;cancer of the rectum;carcinoma of rectum;carcinoma of the rectum;rectal cancer;rectal carcinoma;rectum carcinoma
Rectal disease	EFO_0009685	A disease that involves the rectum.;A disease that involves the rectum. [database_cross_reference: MONDO:patterns/location]	disease of rectum;disease or disorder of rectum;disorder of rectum;rectal disease;rectum disease;rectum disease or disorder
Rectal neoplasm	MONDO_0002165	A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	neoplasm of rectum;neoplasm of the rectum;rectal neoplasm;rectal tumor;rectum neoplasm;rectum neoplasm (disease);rectum tumor;tumor of rectum;tumor of the rectum
Rectum cancer	EFO_1000657	A colorectal cancer that is located_in the rectum.;A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.;Colorectal cancer that is located in the rectum	cancer of rectum;carcinoma of rectum;carcinoma of the rectum;malignant Rectal tumor;malignant neoplasm of rectum;malignant neoplasm of the rectum;malignant rectal neoplasm;malignant rectal tumor;malignant rectum neoplasm;malignant rectum tumor;malignant tumor of rectum;malignant tumor of rectum (disorder);malignant tumor of the rectum;rectal cancer;rectum cancer
Red blood cell distribution width	EFO_0005192	measure of the variation of red blood cell (RBC) volume	RDW
Reduced sperm motility	HP_0012207	An abnormal reduction in the mobility of ejaculated sperm.	Asthenospermia;Reduced sperm motility
Refractive error	MONDO_0004892	A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.	N/A
Regional variant of guillain-barre syndrome	MONDO_0016494	N/A	regional variant of GBS
Reis-b��cklers corneal dystrophy	Orphanet_98961	Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.	Anterior limiting membrane dystrophy type I;Atypical granular corneal dystrophy;Corneal dystrophy of Bowman layer type I;Geographic corneal dystrophy;Granular corneal dystrophy type III;RBCD;Reis-Bucklers corneal dystrophy;Superficial granular corneal dystrophy;anterior limiting membrane dystrophy type 1;anterior limiting membrane dystrophy type I;atypical granular corneal dystrophy;corneal dystrophy of Bowman layer type 1;corneal dystrophy of Bowman layer type I;geographic corneal dystrophy;granular corneal dystrophy type 3;granular corneal dystrophy type III;superficial granular corneal dystrophy
Relapsing-remitting multiple sclerosis	EFO_0003929	The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914);The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)	Acute Relapsing Multiple Sclerosis;MS RELAPSING REMITTING;Multiple Sclerosis, Acute Relapsing;Multiple Sclerosis, Relapsing Remitting;Multiple Sclerosis, Relapsing-Remitting;Multiple Sclerosis, Remitting-Relapsing;RRMS;Relapsing Remitting Multiple Sclerosis;Relapsing-remitting MS;Remitting Relapsing Multiple Sclerosis;Remitting-Relapsing Multiple Sclerosis;relapsing-remitting multiple sclerosis
Renal artery disease	MONDO_0002286	A disease involving the renal artery.	renal vascular disease;vascular disorder of kidney
Renal carcinoma	EFO_0002890	A carcinoma arising from the epithelium of the renal parenchyma (renal cell carcinoma) or the renal pelvis (renal pelvis carcinoma).  The vast majority of renal cell carcinomas are adenocarcinomas.  The vast majority of renal pelvis carcinomas are transitional cell carcinomas.  Renal carcinomas usually affect middle aged and elderly adults.  Hematuria, abdominal pain, and a palpable mass are common symptoms. -- 2004;A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.;A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.	Carcinoma, Hypernephroid;Carcinoma, Nephroid;Carcinomas, Hypernephroid;Carcinomas, Nephroid;Grawitz Tumor;Hypernephroid Carcinoma;Hypernephroid Carcinomas;Hypernephroma;Hypernephromas;Kidney Carcinoma;Nephroid Carcinoma;Nephroid Carcinomas;Renal Collecting Duct Carcinoma;Tumor, Grawitz;carcinoma of kidney;kidney (including renal cell) cancer;kidney (renal) cancer;kidney cancer;kidney carcinoma;renal cancer;renal carcinoma
Renal cell adenocarcinoma	EFO_0005708	A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.	RCC;adenocarcinoma of kidney;adenocarcinoma of the kidney;carcinoma, renal cell, malignant;kidney adenocarcinoma;renal cell adenocarcinoma;renal cell cancer;renal cell carcinoma;renal cell carcinoma, stage unspecified
Renal cell carcinoma	EFO_0000681	A carcinoma arising from the renal parenchyma.  The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991.  There is a strong correlation between cigarette smoking and the development of renal cell carcinoma.  The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass.  A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes.  Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT).  Radical nephrectomy is the standard intervention procedure.  Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.;A carcinoma that arises from glandular epithelial cells of the kidney;A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.	Adenocarcinoma of Kidney;Adenocarcinoma of the Kidney;Adenocarcinoma, Renal Cell;Adenocarcinomas, Renal Cell;Cancer, Renal Cell;Cancers, Renal Cell;Carcinoma of kidney;Carcinoma, Hypernephroid;Carcinoma, Nephroid;Carcinoma, Renal Cell;Carcinomas, Hypernephroid;Carcinomas, Nephroid;Carcinomas, Renal Cell;Grawitz Tumor;Grawitz tumour;Hypernephroid Carcinoma;Hypernephroid Carcinomas;Hypernephroma;Hypernephroma (disorder);Hypernephromas;Kidney Adenocarcinoma;Nephroid Carcinoma;Nephroid Carcinomas;RCC;Renal Cell Adenocarcinoma;Renal Cell Adenocarcinomas;Renal Cell Cancers;Renal Cell Carcinoma;Renal Cell Carcinoma, Stage Unspecified;Renal Cell Carcinomas;Renal Collecting Duct Carcinoma;Renal cell carcinoma (morphologic abnormality);Renal cell carcinoma - morphology;Sarcomatoid Renal Cell Carcinoma;Tumor, Grawitz;adenocarcinoma of kidney;hypernephroma;kidney adenocarcinoma;renal cell cancer;renal cell carcinoma;renal cell carcinoma (disease)
Renal disease with cataract	Orphanet_98646	N/A	renal disease with cataract
Renal fibrosis	EFO_1001517	A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.;Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation.	kidney fibrosis;renal fibrosis
Renal hypertension	EFO_1002039	Hypertension caused by narrowing or occlusion of the renal arteries.;Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.	renal hypertension;renovascular hypertension
Renal system measurement	EFO_0004742	Is a quantification of some renal system biomarker	N/A
Renal transplant outcome measurement	EFO_0005199	quantification of the outcome of a kidney transplant	N/A
Renal tubule disease	EFO_0009566	A disease that involves the renal tubule.	disease of renal tubule;disease or disorder of renal tubule;disorder of renal tubule;renal tubular disease;renal tubular disorder;renal tubule disease;renal tubule disease or disorder
Reproductive behaviour measurement	EFO_0007862	quantification of some aspect of reproductive behaviour such as age at first birth or number of children	N/A
Reproductive system disease	EFO_0000512	A disease involving the reproductive system.;any diease of the reproductive system	Disorder of reproductive system;Disorder of reproductive system (disorder);Non-neoplastic Reproductive system disease;disease of reproductive system;disease or disorder of reproductive system;disorder of reproductive system;genital disorders;genital system disease;reproductive disease;reproductive system disease;reproductive system disease or disorder;reproductive system disorder
Reproductive system neoplasm	EFO_1000051	A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system;A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.	neoplasm of reproductive system;neoplasm of the reproductive system;reproductive neoplasm;reproductive system neoplasm;reproductive system neoplasm (disease);reproductive system tumor;reproductive tumor;tumor of reproductive system;tumor of the reproductive system
Reproductive systen cancer	MONDO_0002149	A malignant neoplasm involving the reproductive organ	cancer of reproductive organ;cancer of reproductive system;malignant neoplasm of reproductive organ;malignant neoplasm of reproductive system;malignant reproductive organ neoplasm;malignant reproductive system neoplasm;reproductive organ cancer;reproductive system cancer;reproductive tumor
Resistin measurement	EFO_0004819	Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies	resistin level;resistin levels
Respiratory failure	EFO_0009686	The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.;The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. [NCIT:C26872]	failure, respiratory;respiratory failure;respiratory insufficiency/failure
Respiratory or thoracic malformation	MONDO_0020001	N/A	N/A
Respiratory syncytial virus infection	EFO_1001413	Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.;Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported.	Human respiratory syncytial virus infection;respiratory syncytial virus infection;respiratory syncytial virus infectious disease
Respiratory system cancer	MONDO_0000376	A malignant neoplasm involving the respiratory system	cancer of respiratory system;malignant neoplasm of respiratory system;malignant respiratory system neoplasm;respiratory system cancer
Respiratory system disease	EFO_0000684	A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs.;A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.	ALVEOL PNEUMONOPATHY NEC;ALVEOL PNEUMONOPATHY NOS;CHR PUL MANIF D/T RADIAT;Chronic and other pulmonary manifestations due to radiation;DISEASES OF THE RESPIRATORY SYSTEM;Disease of respiratory system;Disease of respiratory system (disorder);Disease of respiratory system, NOS;Disorder of respiratory system;Disorder of respiratory system (disorder);INORG DUST PNEUMOCON NEC;LUNG INVOLV IN OTH DIS;Lung involvement in conditions classified elsewhere;Lung involvement in other diseases classified elsewhere;MEDIASTINUM DISEASE NEC;Other alveolar and parietoalveolar pneumonopathy;Other diseases of mediastinum, not elsewhere classified;Other diseases of respiratory system;Other diseases of respiratory system NOS;Other diseases of respiratory system NOS (disorder);Other diseases of respiratory system, not elsewhere classified;Other diseases of trachea and bronchus, not elsewhere classified;Other respiratory system diseases;Other respiratory system diseases (disorder);Other respiratory system diseases NOS;Other respiratory system diseases NOS (disorder);Other specified alveolar and parietoalveolar pneumonopathies;PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS;Pneumoconiosis due to other inorganic dust;RESP COND: EXT AGENT NEC;RESP COND: EXT AGENT NOS;RESP SYSTEM DISEASE NEC;RESP SYSTEM DISEASE NOS;Respiratory System Disorder;Respiratory conditions due to other and unspecified external agents;Respiratory conditions due to other specified external agents;Respiratory conditions due to unspecified external agent;Respiratory disease;Respiratory disorder;Respiratory disorder, NOS;Respiratory system diseases NOS;Respiratory system diseases NOS (disorder);Unspecified alveolar and parietoalveolar pneumonopathy;Unspecified disease of respiratory system;[X]Chronic and other pulmonary manifestations due to radiation;[X]Chronic and other pulmonary manifestations due to radiation (disorder);[X]Other diseases of the respiratory system;[X]Other diseases of the respiratory system (disorder);[X]Respiratory conditions due to other specified external agents;[X]Respiratory conditions due to other specified external agents (disorder);[X]Respiratory conditions due to unspecified external agent;[X]Respiratory conditions due to unspecified external agent (disorder);disease of respiratory system;disease or disorder of respiratory system;disorder of respiratory system;respiratory disease;respiratory disorder;respiratory system disease;respiratory system disease or disorder;respiratory system disorder
Respiratory system neoplasm	EFO_0003853	A tumor (abnormal growth of tissue) of the respiratory system.	Neoplasm, Respiratory Tract;Neoplasms, Respiratory Tract;RESPIRATORY TRACT NEOPL;Respiratory Tract Neoplasm;Respiratory Tract Neoplasms;Tract Neoplasm, Respiratory;Tract Neoplasms, Respiratory
Respiratory tract infectious disease	MONDO_0024355	Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.	N/A
Respiratory tract neoplasm	MONDO_0020641	A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.	neoplasm of respiratory tract;neoplasm of the respiratory tract;neoplasm, respiratory tract;neoplasms, respiratory tract;respiratory system neoplasm;respiratory tract neoplasm;respiratory tract tumor;tract neoplasm, respiratory;tract neoplasms, respiratory;tumor of respiratory tract;tumor of the respiratory tract
Response to acetaminophen	GO_1901554	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetaminophen stimulus. acetaminophen is a non narcotic analgesic, a non steroidal anti inflammatory and an anti pyretic.	response to paracetamol
Response to angiotensin-converting enzyme inhibitor	EFO_0005325	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antiotensin-converting enzyme inhibitor.	N/A
Response to anticoagulant	GO_0061476	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a antocoagulant stimulus.	N/A
Response to anticonvulsant	GO_0036277	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity.	N/A
Response to antineoplastic agent	GO_0097327	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. An antineoplastic agent is any agent that attenuates, kills or inhibits tumour growth.	response to chemotherapeutic agent
Response to cisplatin	GO_0072718	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cisplatin stimulus.	N/A
Response to clozapine	GO_0097338	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a clozapine stimulus.	N/A
Response to cytosine arabinoside	EFO_0005655	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytosine arabinoside stimulus. Cytosine arabinoside is a cytidine analogue used as a drug in the treatment of various carcinomas.	N/A
Response to diuretic	GO_0036270	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diuretic stimulus. A diuretic is an agent that promotes the excretion of urine through its effects on kidney function.	N/A
Response to drug	GO_0042493	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease.	drug resistance;drug susceptibility/resistance
Response to fenofibrate	GO_1901557	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fenofibrate stimulus. Fenofibrates are a class of fibrate drugs which is mainly used to reduce cholesterol levels in patients at risk of cardiovascular disease. Like other fibrates, it reduces both low-density lipoprotein (LDL) and very low density lipoprotein (VLDL) levels, as well as increasing high-density lipoprotein (HDL) levels and reducing triglycerides level. It is used alone or in conjunction with statins in the treatment of hypercholesterolemia and hypertriglyceridemia.CHEBI:5001	N/A
Response to gemcitabine	GO_0036272	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gemcitabine stimulus. Gemcitabine is a 2'-deoxycytidine having geminal fluoro substituents in the 2'-position, and is used as a drug in the treatment of various carcinomas.	N/A
Response to high fat food intake	EFO_0007684	physiological response of an organism, eg in terms of blood lipid levels, to the ingestition of high fat food	N/A
Response to opiate	GO_0014072	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an isoquinoline alkaloid stimulus. An isoquinoline alkaloid is any member of a group of compounds with the heterocyclic ring structure of benzo(c)pyridine which is a structure characteristic of the group of opium alkaloids.	response to isoquinoline alkaloid
Response to osmotic stress	GO_0006970	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell.	osmotic response;osmotic stress response
Response to paclitaxel	GO_1901555	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paclitaxel, an antineoplastic agent derived from yew. Ref CHEBI:45863.	response to taxol
Response to perphenazine	GO_0097334	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a perphenazine stimulus.	N/A
Response to quetiapine	GO_0097335	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a quetiapine stimulus.	N/A
Response to risperidone	GO_0097336	N/A	N/A
Response to statin	GO_0036273	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a statin stimulus, a compound that inhibits HMG-CoA reductases.	N/A
Response to stress	GO_0006950	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).	N/A
Response to vaccine	EFO_0004645	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response.	N/A
Response to ziprasidone	GO_0097337	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ziprasidone stimulus.	N/A
Resting heart rate	EFO_0004351	quantification of the number of times the heart beats in a given time interval, usually a minute, while the body is at rest	N/A
Resting metabolic rate measurement	EFO_0008004	quantification of an individual's resting metabolic rate, the minimum amount of energy required to sustain life during a time period of steady resting conditions. RMR differs from BMR because BMR measurements must meet total physiological equilibrium whereas RMR conditions of measurement can be altered and defined by the contextual limitations.	RMR measurement
Restless legs syndrome	EFO_0004270	A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.;A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736).	Ekbom syndrome;Ekbom's syndrome;Willis-Ekbom disease;Wittmaack-Ekbom syndrome;restless leg syndrome;restless legs;restless legs syndrome
Restrictive cardiomyopathy	EFO_0002630	A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.	Cardiomyopathy, constrictive;RCM;Restrictive cardiomyopathy (disorder);cardiomyopathy, constrictive;primary restrictive cardiomyopathy;primary restrictive cardiomyopathy (disorder);restrictive cardiomyopathy
Reticulocyte count	EFO_0007986	The number of reticulocytes per unit volume of blood. Reticulocytes are immature red blood cells and typically compose aoubt 1% of red blood cells in the human body.	N/A
Retinal cancer	EFO_0005716	A malignant neoplasm involving the retina.;Malignant neoplasm of retina.	cancer of retina;malignant neoplasm of retina;malignant neoplasm of the retina;malignant retina neoplasm;malignant retina tumor;malignant retinal neoplasm;malignant retinal tumor;malignant tumor of retina;malignant tumor of the retina;neoplasm of retina;retina cancer;retinal cancer;retinal tumor
Retinal cell cancer	MONDO_0004338	N/A	cancer of retinal cell;malignant neoplasm of retinal cell;malignant retinal cell neoplasm;retinal cell cancer
Retinal cell neoplasm	MONDO_0024341	A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.	retinal cell neoplasm;retinal cell tumor;retinal neural cell neoplasm
Retinal degeneration	MONDO_0004580	Degeneration of the retina.	degeneration of retina;retina degeneration;retina, Degeneration Of
Retinal dystrophy	Orphanet_71862	N/A	N/A
Retinal neovascularization	HP_0030666	In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.	Retinal neovascularisation
Retinal vascular disease	MONDO_0002311	Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.	retina circulation disorder;retinal vascular disorder
Retinal vascular occlusion	MONDO_0002089	An occlusion of the retinal vasculature.	retinal vasc. occlusion;retinal vascular occlusion;retinal vascular occlusion, unspecified
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Orphanet_247691	Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.	RVCL;RVCL-S;Retinal vasculopathy and cerebral leukoencephalopathy
Retinal vein occlusion	EFO_1001157	An occlusion of the retinal vein.;Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES.	Occlusion, of retinal vein;Retinal Vein Occlusion;Retinal vein occlusion;occlusion, of retinal vein;retinal vein occlusion
Retina neoplasm	MONDO_0021231	A neoplasm (disease) that involves the retina.	neoplasm of retina;neoplasm of the retina;retina neoplasm (disease);retina tumor;retinal neoplasm;retinal tumor;tumor of retina;tumor of the retina
Retinitis	MONDO_0002708	Inflammation of the retina.	inflammation of retina;retina inflammation
Retinitis pigmentosa	Orphanet_791	Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.	retinitis pigmentosa
Retinoblastoma	Orphanet_790	Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral.	N/A
Retinopathy	EFO_0003839	Any disease or disorder of the retina.	eye disease of retina;retina eye disease;retinal disease;retinopathy
Retroperitoneal cancer	EFO_0007466	A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.;An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum.	cancer of retroperitoneal space;malignant neoplasm of retroperitoneal space;malignant neoplasm of retroperitoneum and peritoneum;malignant neoplasm of retroperitoneum and peritoneum NOS (disorder);malignant retroperitoneal neoplasm;malignant retroperitoneal space neoplasm;malignant tumor of peritoneum and retroperitoneum;malignant tumor of peritoneum and retroperitoneum (disorder);neoplasm of retroperitoneum;neoplasm of the retroperitoneum;retroperitoneal cancer;retroperitoneal neoplasm;retroperitoneal space cancer;tumor of retroperitoneum
Retroperitoneal neoplasm	MONDO_0024645	A benign or malignant neoplasm that affects the retroperitoneum.	neoplasm of retroperitoneal space;retroperitoneal neoplasm;retroperitoneal space neoplasm;retroperitoneal space tumor;tumor of retroperitoneal space
Retroperitoneum carcinoma	MONDO_0001502	A carcinoma that arises from epithelial cells of the retroperitoneal space.	carcinoma of retroperitoneal space;carcinoma of retroperitoneum;carcinoma of the retroperitoneum;retroperitoneal cancer;retroperitoneal carcinoma;retroperitoneal space carcinoma
Rett syndrome	Orphanet_778	Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.	Rett syndrome;Rett's disorder;cerebroatrophic hyperammonemia
Rhabdomyosarcoma	EFO_0002918	A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.;A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes.A malignant mesenchymal neoplasm arising from skeletal muscle.Cancer that forms in the soft tissues in a type of muscle called striated muscle. Rhabdomyosarcoma can occur anywhere in the body.	rhabdomyosarcoma;rhabdomyosarcoma (disease);rhabdomyosarcoma, malignant
Rheumatic disease	EFO_0005755	A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.;Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.	rheumatic disorder;rheumatism;rheumatologic disorder
Rheumatic heart disease	EFO_1001161	An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.;Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM.	RHD;Rheumatic Heart Disease;Rheumatic carditis;disease, rheumatic heart;heart disease, rheumatic;rheumatic carditis;rheumatic heart disease
Rheumatic myocarditis	MONDO_0004582	Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).	active rheumatic fever with myocarditis;acute rheumatic carditis;acute rheumatic myocarditis;acute rheumatic myocarditis (disorder) [ambiguous];rheumatic degeneration of myocardium;rheumatic fever with myocarditis;rheumatic myocarditis;rheumatoid myocarditis
Rheumatoid arthritis	EFO_0000685	A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.;A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.;An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint.;Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints.	Arthritis or polyarthritis, rheumatic;Arthritis, Rheumatoid;Chronic rheumatic arthritis;Proliferative arthritis;RA;RA - Rheumatoid arthritis;RhA - Rheumatoid arthritis;Rheumatic gout;Rheumatoid arthritis (disorder);Rheumatoid arthritis NOS;Rheumatoid arthritis NOS (disorder);Rheumatoid disease;arthritis or polyarthritis, rheumatic;arthritis, rheumatoid;atrophic Arthritis;atrophic arthritis;autoimmune arthritis;rheumatoid arthritis
Rhinitis, allergic, perennial	EFO_1001417	Allergic rhinitis caused by indoor allergens and lasting year round.;Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc.	non-seasonal allergic rhinitis;nonseasonal allergic rhinitis;perennial allergic rhinitis
Rhinitis	EFO_0008521	An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.;Rhinitis is an inflammation of the lining of the nose. It is defined clinically as symptoms of runny nose itching, sneezing and nasal blockage (congestion).	inflammation of nasal cavity mucosa;nasal cavity mucosa inflammation;rhinitis
Rickettsiaceae infectious disease	EFO_1001128	Infections with bacteria of the family Rickettsiaceae.;Infections with bacteria of the family rickettsiaceae.	Rickettsiaceae Infections;Rickettsiaceae caused disease or disorder;Rickettsiaceae disease or disorder;Rickettsiaceae infectious disease;primary Rickettsiaceae infectious disease
Rickettsiosis	EFO_1001162	A group of infectious diseases that is caused by Rickettsia.;Infections by the genus RICKETTSIA.	Rickettsia Infections;Rickettsia caused disease or disorder;Rickettsia disease or disorder;Rickettsia infection;Rickettsia infectious disease;Rickettsiae disease;Rickettsial disease;Rickettsial infectious disease;Rickettsial infectious disorder;Rickettsiosis;flea-borne rickettsiosis;infection, Rickettsia;infections, Rickettsia;mite-borne rickettsiosis;rickettsiosis;tick-borne rickettsiosis
Roberts syndrome	Orphanet_3103	Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.	Pseudothalidomide syndrome;Roberts syndrome;Roberts-SC phocomelia syndrome;SC phocomelia;SC pseudothalidomide syndrome;long bone deficiencies associated with cleft LIP-palate;pseudothalidomide syndrome
Rr interval	EFO_0004831	A RR interval is an  electrocardiography measurement  - R wave to R wave interval (RR interval) and is the inverse of the heart rate.	N/A
Rts3b	EFO_0006748	spontaneously immortalised human epidermal keratinocytes	N/A
Salivary gland adenoid cystic carcinoma	MONDO_0003175	An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.	adenoid cystic cancer;adenoid cystic carcinoma;adenoid cystic carcinoma (morphologic abnormality);adenoid cystic carcinoma of salivary gland;adenoid cystic carcinoma of the salivary gland;cylindroma;cylindroma (morphologic abnormality);saliva-secreting gland adenoid cystic carcinoma;salivary gland adenoid cystic cancer;salivary gland adenoid cystic carcinoma
Salivary gland cancer	MONDO_0004669	A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	cancer of saliva-secreting gland;cancer of salivary gland;cancer of the salivary gland;malignant neoplasm of major salivary gland;malignant neoplasm of saliva-secreting gland;malignant neoplasm of salivary gland;malignant neoplasm of salivary gland duct;malignant neoplasm of the salivary gland;malignant saliva-secreting gland neoplasm;malignant salivary gland neoplasm;malignant salivary gland tumor;malignant tumor of salivary gland;malignant tumor of the Major salivary gland;malignant tumor of the salivary gland;saliva-secreting gland cancer;salivary gland cancer
Salivary gland carcinoma	MONDO_0000521	A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.	carcinoma of saliva-secreting gland;carcinoma of salivary gland;carcinoma of the salivary gland;saliva-secreting gland carcinoma;salivary gland cancer;salivary gland carcinoma
Salivary gland disease	EFO_0008581	A disease involving the saliva-secreting gland.;A non-neoplastic or neoplastic (benign or malignant) disorder involving a salivary gland. [ NCI ]	Salivary Gland Disorder;disease of saliva-secreting gland;disease or disorder of saliva-secreting gland;disorder of saliva-secreting gland;non-neoplastic salivary gland disease;saliva-secreting gland disease;saliva-secreting gland disease or disorder;salivary gland disease;salivary gland disorder
Salivary gland neoplasm	EFO_0003826	Tumors of the SALIVARY GLANDS.	Gland Neoplasm, Salivary;Gland Neoplasms, Salivary;NEOPL SALIVARY GLAND;Neoplasm, Salivary Gland;Neoplasms, Salivary Gland;SALIVARY GLAND NEOPL;Salivary Gland Neoplasms
Salmonellosis	MONDO_0000827	Infections with bacteria of the genus salmonella.	Salmonella infection
Sarcoidosis	Orphanet_797	Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.	Besnier-Boeck-Schaumann disease;Boeck sarcoid;Boeck's sarcoid
Sarcoma	EFO_0000691	A cancer that affects connective tissue resulting in mesoderm proliferation.;A malignant mesenchymal neoplasm arising exclusively from the soft tissues.  Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.;A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.;A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.  Sarcomas occur in both children and adults.  The prognosis depends largely on the degree of differentiation (grade) of the tumor.  Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.;A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.;Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.;Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue.	Connective Tissue Sarcoma;Malignant mesenchymal tumor;Malignant mesenchymal tumour;Sarcoma of Soft Tissue;Sarcoma of Soft Tissue and Bone;Sarcoma of the Soft Tissue;Sarcoma of the Soft Tissue and Bone;Sarcoma, NOS;Sarcoma, no ICD-O subtype;Sarcoma, no ICD-O subtype (morphologic abnormality);Soft Tissue Sarcoma;Soft tissue tumor, malignant;Soft tissue tumour, malignant;[M]Sarcoma NOS;[M]Sarcoma NOS (morphologic abnormality);connective and soft tissue neoplasm;mesenchymal tumor, malignant;sarcoma;sarcoma of soft tissue and bone;sarcoma of the soft tissue and bone;sarcoma, malignant;tumor of soft tissue and skeleton
Sarcomatoid mesothelioma	EFO_1000521	A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.	malignant fibrous mesothelioma;malignant fibrous mesothelioma (morphologic abnormality);sarcomatoid mesothelioma;sarcomatoid mesothelioma (morphologic abnormality);spindled mesothelioma
Sarcopenia	EFO_1000653	Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.	sarcopenia;sarcopenias
Scalp disease	MONDO_0044999	A disease or disorder that involves the scalp.	disease of scalp;disease or disorder of scalp;disorder of scalp;scalp disease;scalp disease or disorder
Schizoaffective disorder	EFO_0005411	A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.	schizoaffective disorder
Schizophrenia	EFO_0000692	A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.;A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.	Dementia Praecox;Disorder, Schizophrenic;Disorders, Schizophrenic;Other specified types of schizophrenia;Other specified types of schizophrenia, chronic state;Other specified types of schizophrenia, chronic state with acute exacerbation;Other specified types of schizophrenia, in remission;Other specified types of schizophrenia, subchronic state;Other specified types of schizophrenia, subchronic state with acute exacerbation;Other specified types of schizophrenia, unspecified state;SCHIZO NEC-CHR/EXACERB;SCHIZO NEC-SUBCHR/EXACER;SCHIZO NOS-CHR/EXACERB;SCHIZO NOS-SUBCHR/EXACER;SCHIZOPHRENIA NEC-CHR;SCHIZOPHRENIA NEC-REMISS;SCHIZOPHRENIA NEC-SUBCHR;SCHIZOPHRENIA NEC-UNSPEC;SCHIZOPHRENIA NOS-UNSPEC;SCHIZOPHRENIC DIS;Schizophrenia (disorder);Schizophrenia NOS;Schizophrenia NOS (disorder);Schizophrenia, NOS;Schizophrenias;Schizophrenic Disorder;Schizophrenic Disorders;Schizophrenic disorders (disorder);Unspecified schizophrenia;Unspecified schizophrenia (disorder);Unspecified schizophrenia, chronic state with acute exacerbation;Unspecified schizophrenia, subchronic state with acute exacerbation;Unspecified schizophrenia, unspecified state;[X]Schizophrenia, unspecified;[X]Schizophrenia, unspecified (disorder);schizophrenia;schizophrenia (disease);schizophrenia-1
Schwannoma	EFO_0000693	A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.;A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells.  It recurs infrequently and only rare cases associated with malignant transformation have been reported.;A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH).;A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5);A tumor of the peripheral nervous system composed of neoplastic Schwann cells.  The vast majority of schwannomas follow a benign clinical course.  Only rare cases associated with a malignant clinical course have been reported.	Acoustic neuroma;Ancient neurilemmoma;Ancient neurilemmoma (disorder);Ancient neurilemoma;Ancient schwannoma;Ancient schwannoma (morphologic abnormality);Benign Neurilemmoma;Benign Schwannoma;Cellular schwannoma;Degenerated Neurilemmoma;Degenerated Schwannoma;Malignant Neurilemoma;Malignant Neurilemomas;Melanocytic Schwannoma;Melanotic schwannoma;Neurilemmoma;Neurilemmoma (disorder);Neurilemmoma, NOS;Neurilemmomas;Neurilemmosarcoma;Neurilemmosarcomas;Neurilemoma;Neurilemoma (morphologic abnormality);Neurilemoma, Malignant;Neurilemomas;Neurilemomas, Malignant;Neurinoma;Neurinomas;Pigmented Schawnnoma;Pigmented schwannoma;Plexiform Schwannomatoses;Plexiform Schwannomatosis;Plexiform schwannoma;Psammomatous schwannoma;Schwannoma (WHO Grade I);Schwannoma, NOS;Schwannomas;Schwannomatoses, Plexiform;Schwannomatosis, Plexiform;benign neurilemmoma;benign schwannoma;neurilemmoma;neurilemoma;neurinoma;peripheral fibroblastoma;psammomatous schwannoma;schwannoma;schwannoma (WHO grade I);schwannoma, benign
Scleroderma	EFO_1001993	A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic).;Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).	Morphea "en coup de sabre";Scleroderma;dermatosclerosis;linear scleroderma;localized scleroderma;morphea;scleroderma;scleroderma (disease)
Sclerosing cholangitis	EFO_0004268	A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.;Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS.	Primary sclerosing cholangitis;cholangitis, sclerosing;fibrosing cholangitis;primary sclerosing cholangitis;primary sclerosing cholangitis (PSC);sclerosing cholangitis;sclerosing cholangitis (disease)
Scoliosis	EFO_0004273	A congenital or acquired spinal deformity characterized by lateral curvature of the spine.;An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)	scoliosis
Scrapie	EFO_1001168	A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS.;A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.	Scrapie;scrapie
Seasonal allergic rhinitis	EFO_0003956	Allergic rhinitis caused by outdoor allergens.;Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS.	Allergic Rhinitides, Seasonal;Allergic Rhinitis, Seasonal;Allergies, Pollen;Allergy, Pollen;Fever, Hay;Hay Fever;Hayfever;Pollen Allergies;Pollen Allergy;Pollinoses;Pollinosis;Rhinitides, Seasonal Allergic;Rhinitis, Allergic, Seasonal;Rhinitis, Seasonal Allergic;Seasonal Allergic Rhinitides;hay fever;seasonal allergic rhinitis
Seasonal gut microbiome measurement	EFO_0007753	quantification of some aspect of the seasonal variation in the micrbiome of the gut	N/A
Seasonality measurement	EFO_0006876	Quantification of the seasonal changes in mood and behaviour, usually evaluated through a questionnaire such as the "Seasonal Pattern Assessment Questionnaire" (SPAQ). The resulting score is used as an indictaor to determine the potential presence of seasonal affective disorder SAD.	N/A
Sebaceous adenocarcinoma	EFO_1001171	A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4);An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.	Adenocarcinoma, Sebaceous;Sebaceous carcinoma;adenocarcinoma of the Sebaceous gland;adenocarcinoma of the sebaceous gland;adenocarcinoma, sebaceous, malignant;carcinoma of sebaceous gland;carcinoma of the sebaceous gland;malignant neoplasm of sebaceous gland;malignant sebaceous tumor;sebaceous adenocarcinoma;sebaceous cancer;sebaceous carcinoma;sebaceous gland adenocarcinoma;sebaceous gland carcinoma
Sebaceous gland cancer	MONDO_0037735	A cancer that involves the sebaceous gland.	cancer of sebaceous gland;malignant neoplasm of sebaceous gland;malignant neoplasm of the sebaceous gland;malignant sebaceous gland neoplasm;malignant sebaceous gland tumor;malignant sebaceous neoplasm;malignant sebaceous tumor;malignant tumor of sebaceous gland;malignant tumor of the sebaceous gland
Sebaceous gland disease	EFO_1000763	A disease involving the sebaceous gland.;A skin disease that is located_in the sebaceous gland.	disease of sebaceous gland;disease or disorder of sebaceous gland;disorder of sebaceous gland;sebaceous gland disease;sebaceous gland disease or disorder
Sebaceous gland neoplasm	EFO_1001172	A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.;neoplasm in the sebaceous gland	Sebaceous Gland Neoplasms;Sebaceous neoplasm;benign neoplasm of sebaceous gland;neoplasm of sebaceous gland;sebaceous gland neoplasm;sebaceous gland neoplasm (disease);sebaceous gland tumor;sebaceous neoplasm;sebaceous tumor;tumor of sebaceous gland
Secondary avascular necrosis	MONDO_0018374	N/A	secondary AVN
Secondary dysgenetic glaucoma	Orphanet_98631	N/A	N/A
Secondary ectropion	Orphanet_98571	N/A	secondary ectropion
Secondary glomerular disease	MONDO_0019724	Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established	N/A
Secondary hypertension	EFO_1002034	High blood pressure caused by an underlying medical condition.	secondary hypertension
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease	MONDO_0015928	N/A	CTD-ILD;secondary ILD in childhood and adulthood associated with a connective tissue disease
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease	MONDO_0017037	N/A	secondary ILD in childhood and adulthood associated with a metabolic disease
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease	MONDO_0017035	N/A	secondary ILD in childhood and adulthood associated with a systemic disease
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis	MONDO_0017038	N/A	secondary ILD in childhood and adulthood associated with a systemic vasculitis
Secondary interstitial lung disease in childhood and adulthood	MONDO_0017034	N/A	secondary ILD in childhood and adulthood
Secondary interstitial lung disease specific to adulthood associated with a systemic disease	MONDO_0017028	N/A	secondary ILD specific to adulthood associated with a systemic disease
Secondary neoplasm	MONDO_0024882	A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	secondary neoplasm;secondary tumor
Secretory apparatus of the lacrimal system anomaly	Orphanet_98603	N/A	N/A
Seizures	HP_0001250	Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.	Seizure;Seizures
Selective iga deficiency disease	EFO_1001929	A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.;A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.	IgA deficiency;gamma-A-globulin deficiency;immunoglobulin A deficiency;immunoglobulin A deficiency (disorder);selective IgA Immunodeficiency;selective IgA deficiency disease;selective IgA immunodeficiency;selective immunoglobulin A deficiency;selective immunoglobulin A deficiency (disorder)
Selective immunoglobulin deficiency disease	MONDO_0003739	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.	selective Immunoglobulin isotype deficiency
Selenium measurement	EFO_0006331	quantification of selenium in a sample	N/A
Self reported educational attainment	EFO_0004784	A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated.	N/A
Sella turcica neoplasm	MONDO_0002720	A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.	neoplasm of sella turcica;neoplasm of the sella turcica;sella turcica neoplasm;sella turcica tumor;sellar neoplasm;sellar tumor;tumor of sella turcica;tumor of the sella turcica
Seminoma	MONDO_0003001	A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.	seminoma;seminoma, malignant;seminoma, pure
Sensorineural hearing loss	EFO_1001176	Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.;Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).	Hearing Loss, Central;High Frequency Hearing Loss;High frequency deafness;Perceptive deafness [diagnos];Perceptive hearing loss;Perceptive hearing loss or deafness;SNHL;Sensorineural Deafness;Sensory hearing loss;central hearing loss;high-frequency hearing loss;sensorineural deafness;sensorineural hearing loss;sensorineural hearing loss disorder
Sensory organ benign neoplasm	MONDO_0000633	A benign neoplasm that involves the sense organ.	sense organ benign neoplasm
Sensory peripheral neuropathy	MONDO_0002321	Inflammation or degeneration of the sensory nerves.	peripheral neuropathy of sensory nerve;peripheral sensory neuropathy;sensory nerve peripheral neuropathy;sensory neuropathy
Sensory system cancer	MONDO_0000649	A malignant neoplasm involving the sensory system	cancer of sensory system;malignant neoplasm of sensory system;malignant sensory system neoplasm;sensory system cancer
Sensory system disease	EFO_0001058	A disease involving the sensory system.;A sensory system disease is a disease which has as location the sensory system.	disease of sensory system;disease or disorder of sensory system;disorder of sensory system;sensory disease;sensory system disease;sensory system disease or disorder
Sepsis	HP_0100806	Systemic inflammatory response to infection.	N/A
Septic shock	EFO_0006834	Shock caused by infection; frequently caused by gram negative bacteria, although some cases have been caused by other bacteria, viruses, fungi, and protozoa; characterized by fever, chills, tachycardia, tachypnea, and hypotension. Shock is a state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. 	N/A
Serositis	MONDO_0043786	Inflammation of a serous membrane.	inflammation of serous membrane;serositis;serous membrane inflammation
Serous adenocarcinoma	EFO_0003825	A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185);An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.	serous adenocarcinoma
Serous cystadenocarcinoma	MONDO_0024621	A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.	serous adenocarcinoma;serous cystadenocarcinoma
Serous neoplasm	MONDO_0037256	N/A	serous neoplasm
Sertoli cell-only syndrome	EFO_1001422	A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement.;Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility . In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome . Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome , especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy , and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy . Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.	DEL CASTILLO syndrome;Germinal cell aplasia;Sertoli cell-only syndrome;spermatogenic failure, x-linked, 1;x-linked spermatogenic failture type 1
Serum alanine aminotransferase measurement	EFO_0004735	Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function.	alanine aminotransferase measurement;alanine transaminase measurement
Serum amyloid a-1 protein measurement	EFO_0008282	quantification of the amount of serum amyloid A-1 protein in a sample	N/A
Serum carcinoembryonic antigen measurement	EFO_0005760	Quantification of carcinoembryonic antigen in serum. Carcinoembryonic antigen is a cancer-specific antigen associated with both tumors and the developing fetus. The main use of this antigen is as a tumor marker, especially with respect to intestinal cancers. Production of the antigen ceases shortly before birth, but may reappear in people who develop certain types of cancer.	N/A
Serum copper measurement	EFO_0005267	quantification of copper in blood used in the diagnosis of Wilson's disease (in combination with ceruloplasmin measurement) or copper deficiences. Low levels may indicate Wilson's disease, high levels may indicate liver disease.	N/A
Serum creatinine measurement	EFO_0004518	A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function.	creatinine levels;serum creatinine levels
Serum dimethylarginine measurement	EFO_0005418	quantification of symmetric or asymmetric dimethylarginine in the blood	N/A
Serum galactose-deficient iga1 measurement	EFO_0007947	Quantification of the galactose-deficient immunoglobulin A1, a form of immunoglobulin A1 deficient in the 3-6 O-glycans usually present in the hinge-region segments of the heavy chains of immunoglobulin A1. Galactose-deficient IgA1 (Gd-IgA1) glycoforms are significantly more abundant in individuals with IgA nephropathy than in healthy individuals.	N/A
Serum gamma-glutamyl transferase measurement	EFO_0004532	Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse.	GGT measurement;Gamma gluatamyl transferase levels;Gamma glutamyl transpeptidase levels;gamma glutamyl transferase measurement
Serum iga measurement	EFO_0004912	Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. Reduced levels of IgA may indicate a congenital deficiency and increased levels may indicate multiple myeloma.	IgA levels
Serum igg glycosylation measurement	EFO_0005193	quantification of N-linked IgG glycans in a serum sample	N/A
Serum igm measurement	EFO_0004993	Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM measurements are useful for detecting or monitoring of monoclonal gammopathies and immune deficiencies.	IgM levels
Serum iron measurement	EFO_0006332	quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis	N/A
Serum metabolite measurement	EFO_0005653	quantification of some metabolite in serum	N/A
Serum non-albumin protein measurement	EFO_0004568	The measurement of the non-albumin portion of blood protein (globulin) in serum	N/A
Serum selenium measurement	EFO_0005266	quantification of selenium in blood	N/A
Severe acute respiratory syndrome	EFO_0000694	A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.;A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.;A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV).;A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.;A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.;Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia.	Respiratory Syndrome, Acute, Severe;Respiratory Syndrome, Severe Acute;SARS;SARS ASSOC CORONAVIRUS;SARS coronavirus caused disease or disorder;SARS coronavirus disease or disorder;SARS coronavirus infectious disease;SARS-CoV infection;SARS-associated coronavirus;Severe acute respiratory syndrome (disorder);acute respiratory coronavirus infection;severe acute respiratory syndrome
Severe combined immunodeficiency	Orphanet_183660	Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.	SCID
Severe cutaneous adverse reaction	EFO_0006346	A permanent mark left on the skin in the process of wound healing.;Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis.	SCAR;Scar;scarring;severe cutaneous adverse reaction
Severe pre-eclampsia	MONDO_0001641	Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.	Preeclampsia with severe features;antepartum severe pre-eclampsia;postpartum severe pre-eclampsia;severe pre-eclampsia, with delivery;severe preeclampsia
Sex chromosome disorder of sex development	Orphanet_325546	N/A	Sex chromosome DSD
Sex cord-stromal tumor	EFO_1000052	A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.;A neoplasm involving a sex cord.	Sex cord stromal tumour;Sex cord-stromal neoplasm;Sex cord-stromal tumor;Sex cord-stromal tumor, no ICD-O subtype;Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality);malignant testicular sex cord-stromal tumor;neoplasm of sex cord;sex cord neoplasm;sex cord tumor;sex cord-gonadal stromal tumor;sex cord-stromal tumor;specialized gonadal neoplasm;specialized gonadal neoplasm (morphologic abnormality);specialized gonadal neoplasm NOS (morphologic abnormality);specialized gonadal tumor;specialized gonadal tumor (qualifier value);tumor of sex cord
Sex hormone-binding globulin measurement	EFO_0004696	Is a quantification of sex hormone binding globulin. In men the test is used in when investigating testosterone deficiency.  The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SHBG may be implicated in breast cancer etiology.	SHBG level;SHBG levels
Sex-linked disease	MONDO_0020606	N/A	sex-linked hereditary disorder
Sex ratio	EFO_0004820	The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage	N/A
Sexual dysfunction	EFO_0004714	Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty.	N/A
Sexually transmitted disease	MONDO_0021681	A Disease due to or propagated by sexual contact.	STD;VD;VD, venereal disease;disease (VD), venereal;sexually Transmitted disorder;sexually transmitted disease;venereal disease (VD)
Sezary's disease	EFO_1000785	A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).;Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).	CTCL / Sezary syndrome;SC)zary syndrome;Sezary Syndrome;Sezary disease;Sezary lymphoma;Sezary syndrome;Sezary's disease;Sézary disease;Sézary lymphoma;Sézary syndrome;cutaneous T-cell lymphoma/Sezary syndrome
Short bowel syndrome	MONDO_0015183	Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	acquired short bowel syndrome;short gut syndrome
Shox-related short stature	Orphanet_314795	SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.	SHOX-related short stature
Sickle cell anemia	Orphanet_232	Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.	Sickle cell disease
Sickle cell disease and related diseases	Orphanet_275752	N/A	sickle cell disease and related diseases
Signet ring cell carcinoma	EFO_0000698	A poorly differentiated adenocarcinoma in which the nucleus is pressed to one side by a cytoplasmic droplet of mucus. It usually arises in the gastrointestinal system.;A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.	Carcinoma, Signet Ring Cell;Signet Ring cell adenocarcinoma;Signet ring carcinoma;Signet ring carcinoma NOS (morphologic abnormality);Signet ring cell carcinoma (morphologic abnormality);[M]Signet ring carcinoma NOS;[M]Signet ring carcinoma NOS (morphologic abnormality);signet ring carcinoma;signet ring carcinoma NOS (morphologic abnormality);signet ring cell adenocarcinoma;signet ring cell carcinoma;signet ring cell carcinoma (morphologic abnormality)
Signet ring cell gastric adenocarcinoma	EFO_1000524	A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.	gastric signet Ring cell adenocarcinoma;gastric signet ring cell adenocarcinoma;signet Ring cell adenocarcinoma of stomach;signet Ring cell adenocarcinoma of the stomach;signet Ring cell stomach adenocarcinoma;signet ring cell gastric adenocarcinoma
Silicosis	EFO_0007485	A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.;Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.	Pneumoconiosis due to other silica or silicates;Pneumoconiosis due to silica (disorder);Pneumoconiosis due to silicates (disorder);Silica pneumoconiosis NOS (disorder);Silicosis;Silicotic fibrosis of lung;pneumoconiosis due to silica;pneumoconiosis due to silicates;silica pneumoconiosis;silicosis;silicotic fibrosis of lung;silicotuberculosis
Silver-russell syndrome	Orphanet_813	Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.	Silver-Russell dwarfism
Simple vascular malformation	MONDO_0016230	N/A	N/A
Sinonasal undifferentiated carcinoma	EFO_1000527	A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.	Sinonasal anaplastic carcinoma;sinonasal undifferentiated carcinoma;undifferentiated Sinonasal cancer
Sinusitis	EFO_0007486	A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.;An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.	sinusitis
Sitting height ratio	EFO_0007118	ratio of sitting height to total body height	N/A
Sjogren syndrome	EFO_0000699	An autoimmune disease that results_from attack of immune cells which destroy the exocrine glands that produce tears and saliva.;An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus.;Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.;an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain	Mikulicz disease;SJOGREN'S SYNDROME;Sicca (Sjogren's) syndrome;Sicca syndrome;Sicca syndrome (disorder);Sjgren's syndrome (disorder);Sjogren syndrome;Sjogren's disease;Sjogren's syndrome (disorder);Sjogrens Syndrome;Sjögren syndrome;Syndrome, Sicca;Syndrome, Sjogren's;primary Sjogren-Gougerot syndrome;primary Sjögren-Gougerot syndrome;sicca syndrome;syndrome, Sjogren's;xerodermosteosis
Skeletal muscle cancer	MONDO_0002847	A malignant neoplasm arising from skeletal muscle.	cancer of skeletal muscle tissue;malignant neoplasm of skeletal muscle;malignant neoplasm of skeletal muscle tissue;malignant neoplasm of the skeletal muscle;malignant skeletal muscle neoplasm;malignant skeletal muscle tissue neoplasm;malignant skeletal muscle tumor;malignant tumor of skeletal muscle;malignant tumor of the skeletal muscle;skeletal muscle tissue cancer
Skeletal muscle neoplasm	MONDO_0002848	A benign or malignant mesenchymal neoplasm arising from skeletal muscle.	neoplasm of skeletal muscle;neoplasm of skeletal muscle tissue;neoplasm of the skeletal muscle;skeletal muscle neoplasm;skeletal muscle tissue neoplasm;skeletal muscle tissue neoplasm (disease);skeletal muscle tissue tumor;skeletal muscle tumor;tumor of skeletal muscle;tumor of skeletal muscle tissue;tumor of the skeletal muscle
Skeletal system disease	EFO_0002461	A disease involving the skeletal system.;Any disease which affects part of the skeletal system.	disease of skeletal system;disease or disorder of skeletal system;disorder of skeletal system;skeletal system disease;skeletal system disease or disorder
Skin aging measurement	EFO_0008006	quantification of some aspect of skin aging such as wrinkling or photoaging. Skin aging can be assessed using teh 6-point Beagley and Gibson (BG6) microtopography scoring system of skin patterning regularity and complexity	N/A
Skin appendage carcinoma	EFO_1001183	A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.;A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)	Carcinoma, Skin Appendage;adnexal carcinoma;carcinoma of adnexa;carcinoma of cutaneous appendage;carcinoma of skin appendage;carcinoma, adnexal, malignant;cutaneous appendage carcinoma;skin appendage carcinoma;skin appendage carcinoma (morphologic abnormality)
Skin appendage disease	MONDO_0024481	A disease that involves the cutaneous appendage.	cutaneous appendage disease;cutaneous appendage disease or disorder;disease of cutaneous appendage;disease or disorder of cutaneous appendage;disorder of cutaneous appendage;disorder of skin appendage
Skin cancer	MONDO_0002898	A malignant neoplasm involving the zone of skin	CA - skin cancer;cancer of zone of skin;malignant neoplasm of skin;malignant neoplasm of the skin;malignant neoplasm of zone of skin;malignant skin neoplasm;malignant skin tumor;malignant tumor of skin;malignant tumor of the skin;malignant zone of skin neoplasm;melanoma and non-melanoma skin cancer;skin cancer;skin cancer, Including melanoma;skin neoplasm, malignant;zone of skin cancer
Skin carcinoma	EFO_0009259	A carcinoma that arises from epithelial cells of the zone of skin;A carcinoma that arises from the skin. Representative examples are basal cell carcinoma and squamous cell carcinoma. [ NCI ]	Carcinoma of Skin;Carcinoma of the Skin;Skin Cancer;Skin Carcinoma;carcinoma of skin;carcinoma of the skin;carcinoma of zone of skin;non-melanoma cancer of skin;non-melanoma cancer of the skin;non-melanoma skin cancer;nonmelanoma skin cancer;skin cancer, non-melanoma;skin carcinoma;zone of skin carcinoma
Skin disease caused by infection	MONDO_0024294	Skin diseases caused by bacteria, fungi, parasites, or viruses.	N/A
Skin disease	EFO_0000701	Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.	Cutaneous Disorder;SKIN AND SUBCUTANEOUS TISSUE DISORDERS;Skin Diseases and Manifestations;Skin Disorder;cutaneous disorder;disease of zone of skin;disease or disorder of zone of skin;disorder of skin;disorder of zone of skin;skin and subcutaneous tissue disease;skin disease;skin diseases and manifestations;skin disorder;zone of skin disease;zone of skin disease or disorder
Skin hemangioma	MONDO_0003110	A hemangioma arising from the skin.	angioma of skin;angioma of the skin;angiomatous naevus of skin;hemangioma of skin;hemangioma of the skin;hemangioma of zone of skin;skin angioma;skin hemangioma;zone of skin hemangioma
Skin neoplasm	EFO_0004198	A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.;Tumors or cancer of the SKIN.	cancer of the skin;neoplasm of skin;neoplasm of skin by site;neoplasm of the skin;neoplasm of zone of skin;skin cancer;skin neoplasm;skin neoplasms;skin tumor;tumor of skin;tumor of the skin;tumor of zone of skin;zone of skin neoplasm;zone of skin neoplasm (disease);zone of skin tumor
Skin pigmentation	EFO_0003784	Coloration of the skin.	Pigmentation, Skin;Pigmentations, Skin;Skin Pigmentations
Skin pigmentation measurement	EFO_0007009	quantification of some aspect of skin pigmentation, such as saturation, darkness or skin sensitivity to sun	N/A
Skin sarcoidosis	EFO_1000767	Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.;Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems.	Cutaneous Sarcoidosis;Cutaneous sarcoid;cutaneous sarcoid;cutaneous sarcoidosis;sarcoidosis of zone of skin;skin sarcoidosis;zone of skin sarcoidosis
Skin vascular disease	MONDO_0019293	A disease that involves the superficial vasculature.	skin vascular disorder;superficial vasculature disease;vascular disease of the skin;vascular skin disease;vasculature skin disease
Skin wound	EFO_0005756	an injury to the skin caused by a cut, blow, or other impact.	N/A
Skull base neoplasm	MONDO_0002785	A benign or malignant neoplasm that affects the skull base.	basicranium neoplasm;basicranium neoplasm (disease);basicranium tumor;neoplasm of basicranium;neoplasm of skull base;neoplasm of the skull base;skull base neoplasm;skull base tumor;tumor of basicranium;tumor of skull base;tumor of the skull base;tumors of skull base
Skull cancer	MONDO_0002132	A malignant neoplasm involving the skull.	cancer of skull;malignant neoplasm of skull;malignant skull neoplasm;skull cancer
Skull disorder	MONDO_0024654	A non-neoplastic or neoplastic disorder that affects structures of the skull.	disease of skull;disease or disorder of skull;disorder of skull;skull disease;skull disease or disorder;skull disorder
Skull neoplasm	MONDO_0024653	A benign or malignant neoplasm that affects the bones and structures of the skull.	neoplasm of skull;neoplasm of the skull;skull neoplasm;skull tumor;tumor of skull;tumor of the skull
Sleep apnea	EFO_0003877	A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.;Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.	Apnea Syndrome, Sleep;Apnea Syndromes, Sleep;Apnea, Sleep;Apneas, Sleep;Breathing, Sleep-Disordered;Hypersomnia with Periodic Respiration;Hypopnea, Sleep;Hypopneas, Sleep;Mixed Central and Obstructive Sleep Apnea;Mixed Sleep Apnea;Mixed Sleep Apneas;SDB;Sleep Apnea Syndrome;Sleep Apnea Syndromes;Sleep Apnea, Mixed;Sleep Apnea, Mixed Central and Obstructive;Sleep Apneas;Sleep Apneas, Mixed;Sleep Disordered Breathing;Sleep Hypopnea;Sleep Hypopneas;Sleep-Disordered Breathing;sleep apnea;sleep apnea syndrome
Sleep apnea measurement	EFO_0007817	quantification of some aspect of obstructive sleep apnea, such as oxygen desaturation levels during an apnea event or severity, duration or frequency of apnea events	N/A
Sleep depth	EFO_0005273	self-reported assessment of how difficult an individual is to wake	N/A
Sleep disorder	EFO_0008568	A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.;A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. [ NCI ]	Disturbances, Sleep;Sleep Disorders;Sleep Disturbance;Sleep Disturbances;disorder of sleep-wake cycle;disturbances, sleep;parasomnia;sleep disturbance;sleep disturbances;sleep wake disorder;sleep-wake disorder
Sleep disturbance	HP_0002360	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.	Difficulty sleeping;Sleep disturbances;Sleep dysfunction;Trouble sleeping
Sleep duration	EFO_0005271	duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab	N/A
Sleep latency	EFO_0005280	amount of time, usually recorded in minutes, between going to bed and falling asleep	N/A
Sleep measurement	EFO_0004870	Is a quantification of some sleep parameter.	N/A
Sleep quality	EFO_0005272	quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device	N/A
Slender bone dysplasia	Orphanet_93440	N/A	slender bone dysplasia
Small cell carcinoma	EFO_0008524	A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.;Small-cell carcinoma (or oat-cell carcinoma) is a type of highly malignant cancer that commonly arises in the lung. Uncommonly, small-cell carcinoma arising from outside of the lungs and pleura is referred to as extrapulmonary small-cell carcinoma. They show neuroendocrine differentiation and are positive for neuroendocrine tissue markers: chromogranin and synaptophysin.	oat cell cancer;oat cell carcinoma;reserve cell carcinoma;round cell carcinoma;small cell NEC;small cell cancer;small cell car. (extrapulmonary);small cell carcinoma;small cell carcinoma (extrapulmonary);small cell neuroendocrine carcinoma
Small cell lung carcinoma	EFO_0000702	A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.;A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. (NCI05);An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7);Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.	Carcinoma, Oat Cell;Carcinoma, Small Cell;Carcinomas, Oat Cell;Carcinomas, Small Cell;Lung Oat Cell Carcinoma;Lung Small Cell Neuroendocrine Carcinoma;Oat Cell Carcinoma;Oat Cell Carcinoma of the Lung;Oat Cell Carcinomas;Oat Cell Lung Carcinoma;Oat cell carcinoma of lung;Oat cell carcinoma of lung (disorder);SCLC;SCLC - Small cell lung cancer;Small Cell Carcinoma;Small Cell Carcinoma of Lung;Small Cell Carcinoma of the Lung;Small Cell Carcinomas;Small Cell Neuroendocrine Carcinoma of Lung;Small Cell Neuroendocrine Carcinoma of the Lung;Small cell lung cancer;lung oat cell carcinoma;lung small cell carcinoma;lung small cell neuroendocrine carcinoma;oat cell carcinoma of lung;oat cell carcinoma of the lung;oat cell lung carcinoma;small cell carcinoma of lung;small cell carcinoma of lung (disorder);small cell carcinoma of the lung;small cell lung cancer;small cell lung carcinoma;small cell neuroendocrine carcinoma of lung;small cell neuroendocrine carcinoma of the lung;small-cell lung cancer
Small intestinal adenocarcinoma	EFO_1000532	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	adenocarcinoma - small intest.;adenocarcinoma of small bowel;adenocarcinoma of small instestine;adenocarcinoma of small intestine;adenocarcinoma of the small bowel;adenocarcinoma of the small intestine;small bowel adenocarcinoma;small intestinal adenocarcinoma;small intestine adenocarcinoma
Small intestine cancer	MONDO_0000956	A primary or metastatic malignant neoplasm involving the small intestine.	cancer of small intestine;malignant neoplasm of small bowel;malignant neoplasm of small intestine;malignant neoplasm of the small bowel;malignant neoplasm of the small intestine;malignant small bowel neoplasm;malignant small bowel tumor;malignant small intestinal neoplasm;malignant small intestine neoplasm;malignant small intestine tumor;malignant tumor of small bowel;malignant tumor of small intestine;malignant tumor of the small bowel;malignant tumor of the small intestine;small intestine cancer
Small intestine carcinoma	EFO_0005588	A carcinoma that arises from epithelial cells of the small intestine;A small intestine cancer that develops from epithelial cells and is located_in the small intestine.	carcinoma of small bowel;carcinoma of small intestine;carcinoma of the small bowel;carcinoma of the small intestine;small bowel carcinoma;small intestinal carcinoma;small intestine cancer, NOS;small intestine carcinoma
Small intestine disease	MONDO_0024635	A disease that involves the small intestine.	disease of small intestine;disease or disorder of small intestine;disorder of small intestine;small intestine disease or disorder
Small intestine neoplasm	MONDO_0004251	A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.	neoplasm of small bowel;neoplasm of small intestine;neoplasm of the small bowel;neoplasm of the small intestine;small bowel neoplasm;small bowel tumor;small intestinal neoplasm;small intestine neoplasm;small intestine neoplasm (disease);small intestine tumor;tumor of small bowel;tumor of small intestine;tumor of the small bowel;tumor of the small intestine
Small vessel stroke	EFO_1001504	stroke caused by the blockage of blood flow in one of the small blood vessels in the brain	N/A
Smoking behavior	EFO_0004318	Inhaling and exhaling the smoke of tobacco or something similar to tobacco.	smoking
Smoking cessation	EFO_0004319	Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke.	N/A
Smoking initiation	EFO_0005670	initation of the habit of smoking, the inhaling and exhaling of tobacco smoke.	N/A
Smooth muscle cancer	MONDO_0002924	A malignant neoplasm arising from smooth muscle.	cancer of smooth muscle;cancer of the smooth muscle;malignant neoplasm of smooth muscle;malignant neoplasm of the smooth muscle;malignant smooth muscle neoplasm;malignant smooth muscle tumor;malignant tumor of smooth muscle;malignant tumor of the smooth muscle;smooth muscle cancer
Smooth muscle tumor	EFO_1001185	A benign or malignant myomatous neoplasm arising from smooth muscle.;A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle.	Smooth Muscle Tumor;Smooth muscle tumor NOS (morphologic abnormality);Smooth muscle tumour of uncertain malignant potential;neoplasm of smooth muscle;neoplasm of the Smooth Muscle;neoplasm of the smooth muscle;smooth muscle neoplasm;smooth muscle tumor;tumor of smooth muscle;tumor of the smooth muscle
Sneeze	HP_0025095	The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT.	sneezing
Social communication impairment	EFO_0005427	Significant problems using verbal and nonverbal communication for social purposes, leading to impairments in their ability to effectively communicate, participate socially, maintain social relationships, or otherwise perform academically or occupationally.	N/A
Soft tissue disease	EFO_0009470	A disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue).	N/A
Soft tissue neoplasm	EFO_1000541	A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.	neoplasm of soft tissue;neoplasm of the soft tissue;soft tissue neoplasm;soft tissue tumor;soft tissue tumors;tumor of soft tissue;tumor of the soft tissue
Soft tissue sarcoma	EFO_1001968	A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.	Connective Tissue Sarcoma;Non-Rhabdomyosarcoma soft tissue sarcoma;connective tissue sarcoma;malignant mesenchymal tumor;malignant soft tissue tumor;non-Rhabdo. soft tissue sarcoma;sarcoma of soft tissue;sarcoma of the soft tissue;soft part sarcoma;soft tissue sarcoma
Soluble interleukin-2 receptor subunit alpha measurement	EFO_0007650	quantification of the amount of soluble interleukin-2 receptor subunit alpha in a sample	sIL-2Ra measurement
Soluble p-selectin measurement	EFO_0004519	The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include:CD62 antigen-like family member PGranule membrane protein 140GMP-140Leukocyte-endothelial cell adhesion molecule 3LECAM3Platelet activation dependent granule-external membrane proteinPADGEM	sP-selectin;soluble P-selectin level
Spastic paraparesis	HP_0002313	N/A	N/A
Specific developmental disorder	MONDO_0000592	A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.	specific developmental disorder
Speech perception	EFO_0004336	The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes).	speech discrimination
Sphingolipid measurement	EFO_0004622	Is a quantification of sphingolipids - molecules playing a role in signal transmission.	Sphingolipid assay
Sphingolipidosis	Orphanet_79225	N/A	N/A
Sphingolipidosis with epilepsy	MONDO_0018299	N/A	N/A
Spina bifida	EFO_0003105	A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.	rachischisis;spina bifida;spina bifida (disease);spinal meningocele;spinal myelocele;spinal myelomeningocele
Spinal chordoma	EFO_1000543	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	chordoma of spinal column;chordoma of spine;chordoma of the spinal column;spinal Chordomas;spinal chordoma;spinal column chordoma
Spinal cord compression	EFO_1001845	Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.	N/A
Spinal cord disease	EFO_0009488	A disease involving the spinal cord.	disease of spinal cord;disease or disorder of spinal cord;disorder of spinal cord;spinal cord disease;spinal cord disease or disorder;spinal cord disorder
Spinal cord injury	EFO_1001919	Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces.	Post-Traumatic Myelopathy;Spinal Cord Contusion;Spinal Cord Injuries;Spinal Cord Laceration;Spinal Cord Transection;Spinal Cord Trauma;Traumatic Myelopathy
Spinal cord neoplasm	EFO_0003828	A neoplasm (disease) that involves the spinal cord.;Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.	INTRADURAL EXTRAMEDULLARY SPINAL CORD NEOPL;INTRAMEDULLARY SPINAL CORD NEOPL;Intradural Extramedullary Spinal Cord Neoplasms;Intradural-Extramedullary Spinal Cord Neoplasms;Intramedullary Spinal Cord Neoplasms;Intramedullary Spinal Cord Neoplasms, Primary;NEOPL SPINAL CORD;Neoplasm, Spinal Cord;Neoplasms, Spinal Cord;PRIMARY INTRAMEDULLARY SPINAL CORD NEOPL;PRIMARY SPINAL CORD NEOPL INTRAMEDULLARY;Primary Intramedullary Spinal Cord Neoplasms;Primary Spinal Cord Neoplasms, Intramedullary;SPINAL CORD NEOPL;SPINAL CORD NEOPL BENIGN;SPINAL CORD NEOPL INTRADURAL EXTRAMEDULLARY;SPINAL CORD NEOPL INTRAMEDULLARY;SPINAL CORD NEOPL MALIGNANT;SPINAL CORD NEOPL PRIMARY INTRAMEDULLARY;Spinal Cord Neoplasms;Spinal Cord Neoplasms, Benign;Spinal Cord Neoplasms, Intradural Extramedullary;Spinal Cord Neoplasms, Intradural-Extramedullary;Spinal Cord Neoplasms, Intramedullary;Spinal Cord Neoplasms, Malignant;Spinal Cord Neoplasms, Primary Intramedullary;Spinal Cord Tumor;Spinal Cord Tumors;Tumor, Spinal Cord;Tumors, Spinal Cord;neoplasm of spinal cord;neoplasm of the spinal cord;spinal cancer;spinal cord neoplasm;spinal cord neoplasm (disease);spinal cord tumor;tumor of spinal cord;tumor of the spinal cord
Spinal muscular atrophy	EFO_0008525	Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1 , BICD2 , or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.;Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy.	spinal muscular atrophy
Spinal stenosis	EFO_0007490	A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.;Narrowing of the spinal canal.	Spinal Stenosis;Spinal stenosis of lumbar region;cervical spinal stenosis;lumbar spinal stenosis;spinal stenosis
Spine bone mineral density	EFO_0007701	mineral density of the spine bones	N/A
Spinocerebellar ataxia type 1	Orphanet_98755	Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.	SCA1
Spinocerebellar ataxia type 7	Orphanet_94147	Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.	ATXN7 autosomal dominant cerebellar ataxia type II;Ataxia with pigmentary retinopathy;Cerebellar syndrome - pigmentary maculopathy;SCA7;ataxia with pigmentary retinopathy;autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7;cerebellar syndrome-pigmentary maculopathy syndrome;spinocerebellar ataxia type 7
Spinocerebellar ataxia type 8	Orphanet_98760	Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.	SCA8;spinocerebellar ataxia type 8
Spinocerebellar ataxia with oculomotor anomaly	Orphanet_98693	N/A	spinocerebellar ataxia with oculomotor anomaly
Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly	Orphanet_98694	N/A	spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
Spirochaetales infections	EFO_0009567	Infections with bacteria of the order SPIROCHAETALES.	INFECT SPIROCHAETALES;INFECT SPIROCHETE;Infection, Spirochaetales;Infection, Spirochete;Infections, Spirochaetales;Infections, Spirochete;SPIROCHAETALES INFECT;SPIROCHETE INFECT;Spirochaetales Infection;Spirochaetales Infections;Spirochetal infection;Spirochete Infection;Spirochete Infections;Spirochetosis;spirochaetales infections
Spleen cancer	EFO_0007491	A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.;A malignant neoplasm involving the spleen	Splenic Neoplasms;Splenic neoplasm;cancer of spleen;cancer of the spleen;malignant Splenic tumor;malignant neoplasm of spleen;malignant neoplasm of the spleen;malignant spleen neoplasm;malignant splenic neoplasm;malignant splenic tumor;malignant tumor of spleen;malignant tumor of the spleen;malignant tumour of spleen;spleen cancer;spleen neoplasm;splenic cancer;splenic neoplasm
Spleen neoplasm	MONDO_0036696	A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.	neoplasm of spleen;spleen tumor;splenic neoplasm;tumor of spleen
Splenic disease	EFO_0009002	A disease involving the spleen.	Dyssplenism;disease of spleen;disease or disorder of spleen;diseases of spleen;disorder of spleen;spleen disease;spleen disease or disorder;spleen diseases;spleen disorder;splenic disease
Split hand or/and split foot malformation	Orphanet_294935	N/A	split hand or/and split foot malformation
Split hand-split foot malformation	Orphanet_2440	Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.	Ectrodactyly;Lobster-claw deformity;SHFM;Split hand foot malformation
Spondylitis	MONDO_0003937	The inflammation of a vertebra.	inflammation of vertebra;vertebra inflammation
Spondyloarthropathy	EFO_0000706	A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.;Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others.	Disorder of joint of spine;Disorder of joint of spine (disorder);JOINT DIS NOS-OTH JT;OA - Osteoarthritis of spine;OA - Osteoarthritis of the spine;Osteoarthritis of spine;SPONDYLOS NOS W/O MYELOP;Spondarthropathy;Spondylarthropathies;Spondylarthropathy;Spondylarthrosis;Spondylarthrosis NOS;Spondylarthrosis, NOS;Spondyloarthropathy (disorder);Spondylosis;Spondylosis (disorder);Spondylosis of unspecified site without mention of myelopathy;Spondylosis, NOS;Unspecified joint disorder of other specified sites;seronegative spondyloarthropathy;spondarthropathy;spondylarthrosis;spondyloarthritis;spondyloarthropathy
Spontaneous preterm birth	EFO_0006917	any birth that occurs spontaneously prior to 37 weeks of gestation, eg due to fetal membrane rupture or spontaneous onset of uterine contractions	N/A
Sporadic amyotrophic lateral sclerosis	EFO_0001357	Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.	sporadic amyotrophic lateral sclerosis
Spotted fever	EFO_1002047	A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.;a type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.	spotted fever;spotted fever group rickettsial disease;spotted fever rickettsiae disease;spotted fever rickettsiosis
Squamous cell carcinoma	EFO_0000707	A carcinoma arising from squamous epithelial cells.  Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells.  Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated.  Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells.  Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.;A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.;A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)	Carcinoma, Epidermoid;Carcinoma, Planocellular;Carcinoma, Squamous;Carcinoma, Squamous Cell;Carcinomas, Epidermoid;Carcinomas, Planocellular;Carcinomas, Squamous;Carcinomas, Squamous Cell;Epidermoid Carcinoma;Epidermoid Carcinomas;Epidermoid Cell Cancer;Epidermoid carcinoma, NOS;Malignant Epidermoid Cell Neoplasm;Malignant Epidermoid Cell Tumor;Malignant Squamous Cell Neoplasm;Malignant Squamous Cell Tumor;Planocellular Carcinoma;Planocellular Carcinomas;SCC - Squamous cell carcinoma;Squamous Carcinomas;Squamous Cell Cancer;Squamous Cell Carcinomas;Squamous cell carcinoma (disorder);Squamous cell carcinoma (morphologic abnormality);Squamous cell carcinoma, NOS;Squamous cell carcinoma, no ICD-O subtype;Squamous cell carcinoma, no ICD-O subtype (morphologic abnormality);Squamous cell epithelioma;[M]Squamous cell carcinoma NOS;[M]Squamous cell carcinoma NOS (morphologic abnormality);carcinoma, squamous cell, malignant;epidermoid carcinoma;epidermoid cell cancer;malignant epidermoid cell neoplasm;malignant epidermoid cell tumor;malignant squamous cell neoplasm;malignant squamous cell tumor;skin squamous cell carcinoma;squamous carcinoma;squamous cell cancer;squamous cell carcinoma;squamous cell carcinoma (morphologic abnormality);squamous cell carcinoma NOS (morphologic abnormality);squamous cell epithelioma
Squamous cell carcinoma of pancreas	MONDO_0018521	A squamous cell carcinoma that involves the pancreas.	pancreas squamous cell carcinoma;pancreatic squamous cell carcinoma
Squamous cell lung carcinoma	EFO_0000708	A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges.  Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.;A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.	Epidermoid Cell Carcinoma of Lung;Epidermoid Cell Lung Carcinoma;Epidermoid carcinoma of lung;Epidermoid cell carcinoma of the lung;SCC - Squamous cell carcinoma of lung;Squamous Cell Carcinoma of the Lung;Squamous cell carcinoma of lung;Squamous cell carcinoma of lung (disorder);epidermoid cell carcinoma of lung;epidermoid cell carcinoma of the lung;epidermoid cell lung carcinoma;lung squamous cell carcinoma;squamous cell carcinoma of lung;squamous cell carcinoma of the lung;squamous cell lung cancer;squamous cell lung carcinoma
Squamous cell neoplasm	MONDO_0002532	A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.	epidermoid cell neoplasm;epidermoid cell tumor;squamous cell neoplasm;squamous cell tumor;squamous cell tumor (qualifier value)
Status epilepticus	EFO_0008526	A life-threatening situation in which the brain is in a continuous state of seizure.;Status epilepticus is defined as a continuous seizure lasting more than 30 min, or two or more seizures without full recovery of consciousness between any of them.	grand mal status;status epilepticus
Steinert myotonic dystrophy	Orphanet_273	Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.	DM1;MD1;Myotonic dystrophy type 1;Steinert disease
Stem cell factor measurement	EFO_0008291	quantification of the amount of stem Cell Factor in a sample	N/A
Stem cell growth factor beta measurement	EFO_0008292	quantification of the amount of stem Cell Growth Factor beta in a sample	N/A
Steroid inherited metabolic disorder	EFO_0005590	A lipid metabolism disorder that involves defects in steroid metabolism.;Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.	steroid inherited metabolic disorder
Stevens-johnson syndrome	EFO_0004276	A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown.;Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.	Dermatostomatitis, Stevens Johnson type;Stevens Johnson syndrome;Stevens-Johnson syndrome;erythema multiforme Major
Stomach disease	EFO_0009608	A disease involving the stomach.;A disease involving the stomach. [ MONDO:DesignPattern ]	disease of stomach;disease or disorder of stomach;disorder of stomach;gastropathy;stomach disease;stomach disease or disorder;stomach disorder
Stomach neoplasm	EFO_0003897	A benign or malignant neoplasm involving the stomach.;Tumors or cancer of the STOMACH.	Cancer of Stomach;Cancer of the Stomach;Cancer, Gastric;Cancer, Stomach;Cancers, Gastric;Cancers, Stomach;GASTRIC NEOPL;Gastric Cancer;Gastric Cancers;Gastric Neoplasm;Gastric Neoplasms;NEOPL GASTRIC;NEOPL STOMACH;Neoplasm, Gastric;Neoplasm, Stomach;Neoplasms, Gastric;Neoplasms, Stomach;STOMACH NEOPL;Stomach Cancer;Stomach Cancers;Stomach Neoplasms;gastric neoplasm;gastric tumor;neoplasm of stomach;neoplasm of the stomach;stomach neoplasm;stomach neoplasm (disease);stomach tumor;tumor of stomach;tumor of the stomach
Streptococcal infection	EFO_1001476	Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.;Infections with bacteria of the genus STREPTOCOCCUS.	Streptococcal Infections;Streptococcus caused disease or disorder;Streptococcus disease or disorder;Streptococcus infectious disease;streptococcal infection
Streptococcal meningitis	MONDO_0001316	An infectious meningitis caused by infection with Streptococcus.	Streptococcus caused infectious meningitis;Streptococcus infectious meningitis
Stroke	EFO_0000712	A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810);A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.;A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).;A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810);Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.	Acute Cerebrovascular Accident;Acute Cerebrovascular Accidents;Acute Stroke;Acute Strokes;Apoplexy;Apoplexy, Cerebrovascular;Brain Vascular Accident;Brain Vascular Accidents;CEREBROVASCULAR ACCIDENT, (CVA);CVA;CVA (Cerebrovascular Accident);CVA (cerebral vascular accident);CVA - Cerebrovascular accident;CVA - Cerebrovascular accident unspecified;CVA, CEREBROVASCULAR ACCIDENT;CVA, cerebrovascular accident;CVAs (Cerebrovascular Accident);Cerebral Stroke;Cerebral Strokes;Cerebrovascular Accident;Cerebrovascular Accident, Acute;Cerebrovascular Accidents;Cerebrovascular Accidents, Acute;Cerebrovascular Apoplexy;Cerebrovascular Apoplexya;Cerebrovascular Stroke;Cerebrovascular Strokes;Cerebrovascular accident (disorder);Cerebrovascular accident (disorder) [Ambiguous];STROKE SYNDROME;SYNDROME, STROKE;Stroke NOS;Stroke NOS (disorder);Stroke and cerebrovascular accident unspecified;Stroke and cerebrovascular accident unspecified (disorder);Stroke, Acute;Stroke, Cerebral;Stroke, Cerebrovascular;Stroke/CVA - undefined;Strokes;Strokes, Acute;Strokes, Cerebral;Strokes, Cerebrovascular;Vascular Accident, Brain;Vascular Accidents, Brain;cerebral infarction;cerebrovascular accident;cerebrovascular accident, (CVA);ischemic stroke;stroke;stroke disorder;stroke syndrome;syndrome, stroke;undetermined stroke
Subacute sclerosing panencephalitis	EFO_0007502	A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself).;Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.	Dawson's encephalitis;Immunosuppressive measles encephalitis;SSPE;Subacute Sclerosing Panencephalitis;Subacute inclusion body encephalitis;Subacute sclerosing panencephalitis;Subacute sclerosing panencephalitis (disorder);Subacute sclerosing panencephalitis (disorder) [Ambiguous];Subacute sclerosing panencephalitis (disorder) [ambiguous];Van Bogaert disease;Van Bogaert encephalitis;Van Bogaert's sclerosing leukoencephalitis;Van Bogaert's sclerosing leukoencephalitis (disorder);subacute sclerosing leukoencephalopathy;subacute sclerosing panencephalitis
Subarachnoid hemorrhage	EFO_0000713	Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status.;Intracranial hemorrhage into the subarachnoid space.	Aneurysmal Subarachnoid Hemorrhage;Aneurysmal Subarachnoid Hemorrhages;Hemorrhage, Aneurysmal Subarachnoid;Hemorrhage, Intracranial Subarachnoid;Hemorrhage, Perinatal Subarachnoid;Hemorrhage, Spontaneous Subarachnoid;Hemorrhage, Subarachnoid;Hemorrhages, Aneurysmal Subarachnoid;Hemorrhages, Intracranial Subarachnoid;Hemorrhages, Perinatal Subarachnoid;Hemorrhages, Spontaneous Subarachnoid;Hemorrhages, Subarachnoid;Intracranial Subarachnoid Hemorrhage;Intracranial Subarachnoid Hemorrhages;Perinatal Subarachnoid Hemorrhage;Perinatal Subarachnoid Hemorrhages;SAH (Subarachnoid Hemorrhage);SAH - Subarachnoid haemorrhage;SAH - Subarachnoid hemorrhage;SAHs (Subarachnoid Hemorrhage);Spontaneous Subarachnoid Hemorrhage;Spontaneous Subarachnoid Hemorrhages;Subarachnoid Hemorrhage, Aneurysmal;Subarachnoid Hemorrhage, Intracranial;Subarachnoid Hemorrhage, Perinatal;Subarachnoid Hemorrhage, Spontaneous;Subarachnoid Hemorrhages;Subarachnoid Hemorrhages, Aneurysmal;Subarachnoid Hemorrhages, Intracranial;Subarachnoid Hemorrhages, Perinatal;Subarachnoid Hemorrhages, Spontaneous;Subarachnoid aneurysmal hemorrhage;Subarachnoid haemorrhage;Subarachnoid haemorrhage NOS;Subarachnoid hemorrhage (disorder);Subarachnoid hemorrhage NOS;Subarachnoid hemorrhage NOS (disorder);subarachnoid hemorrhage;subarachnoid hemorrhage (disease)
Subcutaneous adipose tissue measurement	EFO_0004766	Is a quantification of adipose tissue located beneath the skin.	N/A
Subcutaneous tissue disease	MONDO_0019296	A disease involving the superficial fascia.	disease of superficial fascia;disease or disorder of superficial fascia;disorder of superficial fascia;superficial fascia disease;superficial fascia disease or disorder
Substance dependence	MONDO_0004938	The psychological or physiological need to take a substance in oder to experience its effects or to avoid the effects of its absence.	dependence
Substance-related disorder	MONDO_0002494	A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).	substance-Related disorder
Sudden cardiac arrest	EFO_0004278	An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.;Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)	cardiac conduction Disorder;conduction disorder;death, sudden, cardiac;disorder of cardiac conduction;heart conduction disorder;sudden cardiac arrest;sudden cardiac death
Suicidal ideation	EFO_0004320	A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm.	suicidal thought
Sunburn	EFO_0003958	An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.;An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.	Sunburns;sunburn
Suntan	EFO_0004279	An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors.	N/A
Superficial corneal dystrophy	Orphanet_98625	The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.	Anterior corneal dystrophy
Supranuclear oculomotor palsy	Orphanet_98687	oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.	supranuclear oculomotor palsy
Supratentorial cancer	MONDO_0002071	Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.	brain neoplasm, supratentorial;malignant supratentorial neoplasm;malignant supratentorial tumor;supratentorial neoplasms, malignant
Susceptibility to bacterial meningitis measurement	EFO_0008411	Quantification of an individual's susceptibility to bacterial meningitis	N/A
Susceptibility to childhood ear infection measurement	EFO_0007904	quantification of an individual's susceptibility to childhood ear infections, generally as a count of number of infections suffered or a binary scale of presence or absence of childhood ear infections	N/A
Susceptibility to cold sores measurement	EFO_0008402	Quantification of an individual's susceptibility to shingles, a pinaful rash resultin from reactivation of latent Varicella zoster virus infection within a dorsal root ganglion, typically occuring in later life.	N/A
Susceptibility to common cold measurement	EFO_0008417	Quantification of an individual's susceptibility to the common cold	N/A
Susceptibility to hepatitis a infection measurement	EFO_0008415	Quantification of an individual's susceptibility to hepatitis A	N/A
Susceptibility to hepatitis b infection measurement	EFO_0008405	Quantification of an individual's susceptibility to hepatitis B	N/A
Susceptibility to measles measurement	EFO_0008414	Quantification of an individual's susceptibility to measles	N/A
Susceptibility to mononucleosis measurement	EFO_0008403	Quantification of an individual's susceptibility to infectious mononucleosis, a syndrome of fever, tonsillitis, swollen lymph nodes, and persistent fatigue resulting from primary infection with the Epstein-Barr virus.	susceptibility to glandular fever measurement;susceptibility to infectious mononucleosis measurement
Susceptibility to mumps measurement	EFO_0008404	Quantification of an individual's susceptibility to mumps, a syndrome of low-grade fever, malaise, headache, and characteristic swelling of the parotid glands that is caused by the mumps virus	N/A
Susceptibility to mycobacterium tuberculosis infection measurement	EFO_0008407	Quantification of an individual's susceptibility to infection with Mycobacterium tuberculosis	N/A
Susceptibility to plantar warts measurement	EFO_0008406	Quantification of an individual's susceptibility to plantar warts	N/A
Susceptibility to pneumonia measurement	EFO_0008410	Quantification of an individual's susceptibility to pneumonia, an infection of the lung tissue, typically by bacteria or viruses	N/A
Susceptibility to rheumatic fever measurement	EFO_0008416	Quantification of an individual's susceptibility to rheumatic fever, arising as a complication of primary infection with Group A Streptococcus	N/A
Susceptibility to rubella infection measurement	EFO_0008418	Quantification of an individual's susceptibility to shingles	N/A
Susceptibility to scarlet fever measurement	EFO_0008409	Quantification of an individual's susceptibility to scarlet fever, a syndrome of rash, sore throat and fever caused by Group A Streptococcal infection	N/A
Susceptibility to shingles measurement	EFO_0008401	Quantification of an individual's susceptibility to cold sores, vesicular lesions of the lips and mouth caused by another member of the human herpesvirus family, herpes simplex virus type 1 (HSV-1)	susceptibility to herpes zoster measurement
Susceptibility to strep throat measurement	EFO_0008408	Quantification of an individual's susceptibility to throat symptoms and fever caused by Group A Streptococcal infection	N/A
Susceptibility to urinary tract infection measurement	EFO_0008413	Quantification of an individual's susceptibility to infactions of the urinary tract, typically caused by Escherichia coli, Staphylococcus saprophyticus, or other fecal flora.	susceptibility to cystitis
Susceptibility to vaginal yeast infection measurement	EFO_0008412	Quantification of an individual's susceptibility to vaginal yeast infection or thrush, typically by Candida albicans or other Candida species.	susceptibility to Candida vulvovaginitis measurement;susceptibility to thrush measurement
Sweat gland disease	EFO_1000772	A disease involving the sweat gland.;disorders or sweat glands	disease of sweat gland;disease or disorder of sweat gland;disorder of sweat gland;sweat gland disease;sweat gland disease or disorder
Swine influenza	EFO_0005226	An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.;An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.	H1N1 Influenza;H1N1 Virus infection;H1N1 flu;Influenza A (H1N1);Influenza A (H1N1) Virus infection;SIV;Swine influenza virus caused influenza;Swine influenza virus influenza;swine flu;swine influenza
Sympathetic nervous system disease	MONDO_0044993	A disease or disorder that involves the sympathetic nervous system.	disease of sympathetic nervous system;disease or disorder of sympathetic nervous system;disorder of sympathetic nervous system;sympathetic nervous system disease;sympathetic nervous system disease or disorder
Sympathetic paraganglioma	MONDO_0021072	A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.	Chromaffinoma;chromaffin neoplasm;chromaffin tumor;paraganglioma of sympathetic nervous system;sympathetic Paraganglionic neoplasm;sympathetic nervous system paraganglioma;sympathetic paraganglioma
Synaptopathy	MONDO_0021017	A disease caused by dysfunction of synapses.	N/A
Syndrome associated with hypertrophic cardiomyopathy	Orphanet_217595	N/A	N/A
Syndrome associated with pierre robin syndrome	Orphanet_138063	N/A	Syndrome associated with Pierre Robin sequence
Syndrome caused by partial chromosomal deletion	MONDO_0000761	N/A	N/A
Syndrome or malformation associated with head and neck malformations	Orphanet_156237	N/A	syndrome or malformation associated with head and neck malformations
Syndrome with 46,xx disorder of sex development	Orphanet_325109	N/A	Syndrome with 46,XX DSD;syndrome with 46,XX DSD;syndrome with 46,XX disorder of sex development
Syndrome with a symptomatic strabismus	Orphanet_98683	N/A	syndrome with a symptomatic strabismus
Syndrome with brachydactyly	Orphanet_69028	Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.	syndrome with brachydactyly
Syndrome with combined immunodeficiency	MONDO_0018035	N/A	N/A
Syndrome with combined immunodeficiency	Orphanet_331217	N/A	N/A
Syndrome with disorder of sex development of gynecological interest	Orphanet_325638	N/A	Syndrome with DSD of gynecological interest;syndrome with DSD of gynecological interest;syndrome with disorder of sex development of gynecological interest
Syndrome with hypoparathyroidism	Orphanet_181402	N/A	syndrome with hypoparathyroidism
Syndromic anorectal malformation	Orphanet_117573	N/A	N/A
Syndromic cataract	Orphanet_98641	N/A	N/A
Syndromic developmental defect of the eye	Orphanet_108987	N/A	N/A
Syndromic diaphragmatic or abdominal wall malformation	MONDO_0015216	A diaphragmatic or abdominal wall malformation that is part of a larger syndrome.	syndrome associated with diaphragmatic or abdominal wall malformation;syndromic diaphragmatic or abdominal wall malformation
Syndromic diaphragmatic or thoracic malformation	MONDO_0015880	N/A	N/A
Syndromic disease	MONDO_0002254	A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.	cluster, symptom;clusters, symptom;symptom cluster;symptom clusters;syndrome;syndrome associated with disease or disorder;syndromes;syndromic disease;syndromic disease or disorder
Syndromic epicanthus	Orphanet_98574	N/A	syndromic epicanthus
Syndromic gastroduodenal malformation	Orphanet_108965	N/A	N/A
Syndromic genetic deafness	Orphanet_90642	N/A	syndromic genetic deafness
Syndromic hereditary optic neuropathy	MONDO_0018609	A hereditary optic neuropathy that is part of a larger syndrome.	syndrome associated with hereditary optic neuropathy;syndromic hereditary optic neuropathy
Syndromic intellectual disability	MONDO_0000508	A intellectual disability that is part of a larger syndrome.	syndrome associated with intellectual disability;syndromic intellectual disability
Syndromic intestinal malformation	Orphanet_108969	N/A	N/A
Syndromic keratoconus	Orphanet_98623	N/A	N/A
Syndromic lymphedema	Orphanet_89832	N/A	N/A
Syndromic myopia	Orphanet_98620	N/A	N/A
Syndromic nail anomaly	Orphanet_79370	N/A	N/A
Syndromic neurometabolic disease with x-linked intellectual disability	Orphanet_182076	N/A	syndromic neurometabolic disease with X-linked intellectual disability
Syndromic obesity	Orphanet_240371	N/A	syndrome associated with obesity (disease);syndromic genetic obesity;syndromic obesity (disease)
Syndromic renal or urinary tract malformation	Orphanet_93547	N/A	N/A
Syndromic respiratory or mediastinal malformation	MONDO_0015222	A respiratory or mediastinal malformation that is part of a larger syndrome.	syndrome associated with respiratory or mediastinal malformation;syndromic respiratory or mediastinal malformation
Syndromic urogenital tract malformation	Orphanet_165707	N/A	N/A
Synophrys measurement	EFO_0007906	quantification of some aspect of unibrows, such as their presence or absence, or their severity	monobrow measurement;unibrow measurement
Synovial sarcoma	EFO_0001376	A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363);A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11).  It can occur at any age, but mainly affects young adults, more commonly males.  Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee.  Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components).  Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes.;Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).	Malignant synovioma;SS;Sarcoma, Synovial;Sarcomas, Synovial;Synovial Sarcomas;Synovial sarcoma (disorder);Synovial sarcoma (morphologic abnormality);Synovial sarcoma, NOS;Synovialosarcoma;Synovioma;Synovioma, NOS;Synovioma, malignant;Synoviomas;[M]Synovial sarcoma NOS;[M]Synovioma NOS;sarcoma, synovial, malignant;synovial sarcoma;synovial sarcoma (disease)
Synucleinopathy	DOID_0050890	A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]	alpha Synucleinopathies;synucleinopathy
Systemic autoimmune disease	MONDO_0015939	An autoimmune form of systemic disease.	autoimmune systemic disease
Systemic disease	MONDO_0015938	A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole.	multi-system disorder;multisystem disorder;systemic disorder
Systemic diseases with anterior uveitis	MONDO_0017259	N/A	N/A
Systemic diseases with panuveitis	MONDO_0017261	N/A	N/A
Systemic diseases with posterior uveitis	MONDO_0017260	N/A	N/A
Systemic disease with cataract	Orphanet_98643	N/A	systemic disease with cataract
Systemic disease with skin involvement	MONDO_0017368	N/A	N/A
Systemic inflammatory disease associated with an acquired peripheral neuropathy	MONDO_0016177	N/A	N/A
Systemic juvenile idiopathic arthritis	EFO_1001999	Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.	SoJIA;Still disease;sJIA;systemic polyarthritis;systemic-onset JIA;systemic-onset juvenile idiopathic arthritis
Systemic lupus erythematosus	EFO_0002690	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.;An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.	Disease, Libman-Sacks;LIBMAN SACKS DIS;Libman Sacks Disease;Libman-Sacks Disease;Lupus Erythematosus Disseminatus;Lupus Erythematosus, Systemic;SLE;SLE - lupus erythematosus, systemic;disseminated lupus erythematosus;lupus;lupus erythematosus, systemic;systemic lupus erythematosus;systemic lupus erythematosus (disease)
Systemic mastocytosis	MONDO_0016586	Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.	Mast cell disease;SMCD - systemic mast cell disease;systemic mastocytosis;systemic tissue Mast cell disease;systemic tissue mast cell disease
Systemic or rheumatic disease	MONDO_0020012	N/A	N/A
Systemic scleroderma	EFO_0000717	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.;A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.;A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.	PSS;PSS (progressive systemic sclerosis);PSS - Progressive systemic sclerosis;Progressive systemic sclerosis;SS - Systemic sclerosis;SSc;SSc, diffuse sclerosis;Scleroderma;Scleroderma (& [systemic sclerosis]);Scleroderma syndrome;Scleroderma, Systemic;Scleroderma, diffuse;Scleroderma, systemic;Sclerosis, Systemic;Systemic sclerosis;Systemic sclerosis (disorder);Thibierge-Weissenbach syndrome;diffuse Scleroderma;diffuse sclerosis;progressive systemic sclerosis;systemic Scleroderma;systemic scleroderma;systemic sclerosis
Systolic blood pressure	EFO_0006335	The blood pressure during the contraction of the left ventricle of the heart.	SYSBP;systolic pressure
Tauopathy	EFO_0005815	Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.;Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain.	tauopathy
T-b+ severe combined immunodeficiency	Orphanet_317416	T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.	T-B+ SCID;T-B+ severe combined immunodeficiency;T-cell negative B-cell positive SCID
T-cell acute lymphoblastic leukemia	EFO_0000209	Acute lymphoblastic leukemia of T-cell origin.  It comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001);Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001);Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.;This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases.  It is more common in males than females.  (WHO, 2001)	ATLL;Acute T Cell Lymphoblastic Leukemia;Acute T Cell Lymphocytic Leukemia;Acute T-Cell Leukemia;Acute T-Cell Lymphoblastic Leukemia;Acute T-Cell Lymphocytic Leukemia;Adult T-Cell Leukemia;Adult T-Cell Leukemia-Lymphoma;Adult T-Cell Leukemia-Lymphomas;Adult T-Cell Leukemias;HTLV ALL;HTLV Associated Leukemia Lymphoma;HTLV I Associated T Cell Leukemia Lymphoma;HTLV-Associated Leukemia-Lymphoma;HTLV-Associated Leukemia-Lymphomas;HTLV-I-Associated T-Cell Leukemia-Lymphoma;HTLV-I-Associated T-Cell Leukemia-Lymphomas;Human T Cell Leukemia Lymphoma;Human T Lymphotropic Virus Associated Leukemia Lymphoma;Human T Lymphotropic Virus-Associated Leukemia-Lymphoma;Human T-Cell Leukemia-Lymphoma;Human T-Cell Leukemia-Lymphomas;Leukemia Lymphoma, Adult T Cell;Leukemia Lymphoma, T Cell, Acute, HTLV I Associated;Leukemia, Adult T Cell;Leukemia, Adult T-Cell;Leukemia-Lymphoma, Adult T-Cell;Leukemia-Lymphoma, HTLV-Associated;Leukemia-Lymphoma, HTLV-I-Associated T-Cell;Leukemia-Lymphoma, Human T-Cell;Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated;Leukemia-Lymphomas, Adult T-Cell;Leukemia-Lymphomas, HTLV-Associated;Leukemia-Lymphomas, HTLV-I-Associated T-Cell;Leukemia-Lymphomas, Human T-Cell;Leukemias, Adult T-Cell;Precursor T Lymphoblastic Leukemia;Precursor T-Lymphoblastic Leukemia;Precursor T-cell lymphoblastic leukaemia;Precursor T-cell lymphoblastic leukemia;T Acute Lymphoblastic Leukemia;T Cell Leukemia Lymphoma, Adult;T Cell Leukemia Lymphoma, HTLV I Associated;T Cell Leukemia, Adult;T acute lymphoblastic leukemia;T-ALL;T-Cell Leukemia, Adult;T-Cell Leukemia-Lymphoma, Adult;T-Cell Leukemia-Lymphoma, HTLV-I-Associated;T-Cell Leukemia-Lymphoma, Human;T-Cell Leukemia-Lymphomas, Adult;T-Cell Leukemia-Lymphomas, HTLV-I-Associated;T-Cell Leukemia-Lymphomas, Human;T-Cell Leukemias, Adult;T-Cell Type Acute Leukemia;T-cell ALL;T-cell acute lymphoblastic leukaemia;T-cell acute lymphoblastic leukemia;T-cell acute lymphoblastic leukemia (disorder);T-cell acute lymphocytic leukemia;T-cell type acute leukemia;acute T cell leukemia;acute T cell lymphoblastic leukemia;acute T cell lymphocytic leukemia;acute T-cell leukemia;acute T-cell lymphoblastic leukemia;acute T-cell lymphocytic leukemia;precursor T-lymphoblastic leukemia;precursor T-lymphoblastic leukemia (T-cell ALL)
T-cell and nk-cell neoplasm	MONDO_0024615	N/A	T-cell and NK-cell neoplasm;T-cell neoplasm
T-cell immunodeficiency	MONDO_0003780	A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	T-cell immunodeficiency;T-lymphocyte deficiency;T-lymphocyte deficiency (finding);T-lymphocyte immunodeficiency
T-cell leukemia	EFO_0005592	A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)	Leukemia, T-Cell;Precursor T Lymphoblastic Leukemia/Lymphoma;Precursor T Lymphoblastic Lymphoma/Leukemia;Precursor T-Lymphoblastic Lymphoma/Leukemia;T Lymphoblastic Leukemia/Lymphoma;T cell leukemia (disease);T-cell leukemia;leukemia (disease) of T cell
T-cell non-hodgkin lymphoma	MONDO_0015760	A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003	T cell lymphoma;T-cell NHL;T-cell and NK-cell non-Hodgkin lymphoma;T-cell and NK-cell non-Hodgkin's lymphoma;T-cell lymphoma;T-cell non-Hodgkin lymphoma;T-cell non-Hodgkin's lymphoma;non-Hodgkin's T-cell lymphoma
Telangiectasis	MONDO_0001576	Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.	telangiectasia
Telecanthus	Orphanet_98575	N/A	telecanthus
Telomere length	EFO_0004505	A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging.	N/A
Temperament and character inventory	EFO_0004825	An inventory for personality traits devised by Cloninger et al. Traits scored include:Novelty Seeking (NS)Harm Avoidance (HA)Reward Dependence (RD)Persistence (PS)Self-Directedness (SD)Cooperativeness (CO)Self-Transcendence (ST)	N/A
Temporal arteritis	EFO_1001209	A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed);Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.	Giant Cell Arteritis;Giant cell Arteritis;Giant cell arteritis;Giant cell arteritis (disorder);Giant cell arteritis NOS (disorder);Horton disease;Horton's disease;Temporal arteritis (disorder);giant cell arteritis;inflammation of temporal artery;temporal arteritis;temporal artery inflammation
Temporal lobe epilepsy	EFO_0000773	A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH).;A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321);A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)	Benign Psychomotor Epilepsy, Childhood;Childhood Benign Psychomotor Epilepsy;Epilepsies, Lateral Temporal;Epilepsies, Temporal Lobe;Epilepsies, Uncinate;Epilepsy, Benign Psychomotor, Childhood;Epilepsy, Lateral Temporal;Epilepsy, Uncinate;Lateral Temporal Epilepsies;Lateral Temporal Epilepsy;Psychomotor seizure;TLE - Temporal lobe epilepsy;Temporal Lobe Epilepsies;Temporal lobe epilepsy (disorder);Temporal lobe epilepsy (disorder) [Ambiguous];Uncinate Epilepsies;Uncinate Epilepsy;epilepsy of temporal lobe;epilepsy, temporal lobe;temporal lobe epilepsy
Teratocarcinoma	DOID_3305	A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.	Teratocarcinoma;mixed Embryonal carcinoma and teratoma
Teratozoospermia	EFO_0002625	presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends	teratospermia;teratozoospermia
Terminal limb defects	Orphanet_294929	N/A	Terminal meromelia;non-syndromic terminal limb defects;nonsyndromic terminal limb defects;terminal limb defects;terminal meromelia
Testicular carcinoma	EFO_0005088	A carcinoma affecting the testis.;A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.	cancer of testis;malignant neoplasm of testis;malignant neoplasm of the testis;malignant testicular neoplasm;malignant testicular tumor;malignant testis neoplasm;malignant tumor of testis;malignant tumor of the testis;neoplasm of testis;testicular cancer;testis cancer
Testicular disease	EFO_0009601	A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.;A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. [ NCIT:C26890 ]	disease of testis;disease or disorder of testis;disorder of testis;testicular disease;testicular disorder;testis disease;testis disease or disorder;testis disorder
Testicular embryonal carcinoma	EFO_1000565	A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.	embryonal carcinoma of testis;embryonal carcinoma of the testis;embryonal testis carcinoma;testicular embryonal carcinoma;testis embryonal carcinoma
Testicular germ cell tumor	EFO_1000566	A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	TGCT;germ cell neoplasm of testis;germ cell neoplasm of the testis;germ cell tumor of testis;germ cell tumor of the testis;testicular germ cell neoplasm;testicular germ cell neoplasms;testicular germ cell tumor;testis germ cell tumor
Testicular neoplasm	EFO_0004281	Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms.	testicular cancer;testicular germ cell cancer;testicular germ cell tumor;testicular neoplasms
Testicular non-seminomatous germ cell cancer	MONDO_0003403	A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.	malignant non-seminomatous germ cell cancer of testis;malignant non-seminomatous germ cell cancer of the testis;malignant non-seminomatous germ cell neoplasm of testis;malignant non-seminomatous germ cell neoplasm of the testis;malignant non-seminomatous germ cell tumor of testis;malignant non-seminomatous germ cell tumor of the testis;malignant testicular non-seminomatous germ cell neoplasm;malignant testicular non-seminomatous germ cell tumor;testicular germ cell tumor non-seminomatous, malignant;testicular non-seminomatous germ cell cancer;testicular non-seminomatous germ cell tumor, malignant;testicular non-seminomatous malignant germ cell neoplasm
Testicular non-seminomatous germ cell tumor	EFO_1000570	A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.	non-dysgerminomatous germ cell tumor of testis;non-seminomatous germ cell tumor of testis;testicular germ cell tumor non-seminomatous;testicular non seminomatous germ cell tumor;testicular non-dysgerminomatous germ cell tumor;testicular non-seminomatous germ cell tumor
Testicular pure germ cell tumor	MONDO_0002874	A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.	testicular Pure germ cell tumor
Testosterone measurement	EFO_0004908	is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of precocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.	testosterone level;testosterone levels
Tetralogy of fallot	HP_0001636	A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.	Tetrology of fallot
Tetrasomy 12p	Orphanet_884	Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.	Isochromosome 12p mosaicism;Isochromosome 12p syndrome;Pallister-Killian syndrome;tetrasomy 12p;tetrasomy type 12p
Tetrasomy	MONDO_0030502	N/A	tetrasomy
Thalamic cancer	MONDO_0003766	A cancer involving a dorsal plus ventral thalamus.	cancer of dorsal plus ventral thalamus;dorsal plus ventral thalamus cancer;malignant dorsal plus ventral thalamus neoplasm;malignant neoplasm of dorsal plus ventral thalamus;malignant neoplasm of thalamus;malignant neoplasm of the thalamus;malignant thalamic neoplasm;malignant thalamic neoplasms;malignant thalamic tumor;malignant thalamic tumors;malignant thalamus neoplasm;malignant thalamus neoplasms;malignant thalamus tumor;malignant thalamus tumors;malignant tumor of thalamus;malignant tumor of the thalamus;tumor of thalamus
Thalamic disease	MONDO_0003081	A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.	disease of dorsal plus ventral thalamus;disease or disorder of dorsal plus ventral thalamus;disorder of dorsal plus ventral thalamus;dorsal plus ventral thalamus disease;dorsal plus ventral thalamus disease or disorder
Third cranial nerve disease	MONDO_0003546	A disease involving the oculomotor nerve.	disease of oculomotor nerve;disease or disorder of oculomotor nerve;disorder of oculomotor nerve;oculomotor nerve disease;oculomotor nerve disease or disorder;oculomotor nerve disorder
Thoracic aortic aneurysm	EFO_0004282	An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.;An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	aortic aneurysm, thoracic;thoracic aortic aneurysm
Thoracic cancer	MONDO_0003274	A primary or metastatic malignant neoplasm affecting the tissues of the thorax.	cancer of thoracic segment of trunk;malignant neoplasm of the thorax;malignant neoplasm of thoracic segment of trunk;malignant neoplasm of thorax;malignant thoracic neoplasm;malignant thoracic segment of trunk neoplasm;malignant thoracic tumor;malignant tumor of the thorax;malignant tumor of thorax;thoracic segment of trunk cancer;thoracic tumor;thorax cancer
Thoracic disease	MONDO_0000651	A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma.	disease of thoracic segment of trunk;disease or disorder of thoracic segment of trunk;disorder of thoracic segment of trunk;disorder of thorax;thoracic disease;thoracic disorder;thoracic segment of trunk disease;thoracic segment of trunk disease or disorder
Thrombocytopenia	HP_0001873	A reduction in the number of circulating thrombocytes.	Low platelet count
Thrombocytopenic purpura	MONDO_0043768	Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.	thrombocytopenic purpura
Thrombocytosis disease	MONDO_0002249	A disease characterized by higher than normal platelet counts in the peripheral blood.	Platelet count increased;Thrombocythaemia;elevated Platelet count
Thrombospondin-2 measurement	EFO_0008299	quantification of the amount of thrombospondin-2 in a sample	N/A
Thrombotic disease	MONDO_0000831	The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.	Clots, blood;Thromboses;blood Clots;blood clot;clot, blood;thrombosis;thrombotic disorder;thrombus
Thrombotic disorder due to an acquired platelet anomaly	MONDO_0016637	N/A	N/A
Thrombotic disorder due to a platelet anomaly	MONDO_0016635	N/A	N/A
Thymic epithelial neoplasm	MONDO_0018079	An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.	TEN;Thymus epithelial neoplasm;Thymus epithelial tumor;epithelial neoplasm of Thymus;epithelial neoplasm of the Thymus;epithelial tumor of Thymus;epithelial tumor of the Thymus;thymic epithelial tumor;thymic epithelium neoplasm;thymus epithelial neoplasm
Thymoma	EFO_1000581	A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.	primary thymic epithelial neoplasm;primary thymic epithelial tumor;thymoma;thymoma (disease)
Thymus gland disease	MONDO_0003393	A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.	Thymus disorder;disease of thymus;disease of thymus gland;disease or disorder of thymus;disorder of thymus;disorder of thymus gland;thymus disease;thymus disease or disorder
Thymus hyperplasia	EFO_1001860	Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)	hyperplasia, thymus
Thymus neoplasm	EFO_0002626	A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.	Thymic tumor;Thymus neoplasm;Thymus tumor;neoplasm of Thymus;neoplasm of the Thymus;neoplasm of thymus;neoplasm of thymus (disorder);thymic neoplasm;thymic tumor;thymus neoplasm;thymus neoplasm (disease);thymus tumor;tumor of Thymus;tumor of the Thymus;tumor of thymus
Thyroid adenoma (disease)	MONDO_0002454	A adenoma that involves the thyroid gland.	adenoma of thyroid gland;thyroid adenoma;thyroid gland adenoma
Thyroid cancer	MONDO_0002108	A malignant neoplasm involving the thyroid gland	cancer of thyroid gland;malignant Thyroid gland neoplasm;malignant Thyroid gland tumor;malignant Thyroid neoplasm;malignant Thyroid tumor;malignant neoplasm of Thyroid;malignant neoplasm of Thyroid gland;malignant neoplasm of the Thyroid;malignant neoplasm of the Thyroid gland;malignant neoplasm of thyroid gland;malignant thyroid gland neoplasm;malignant tumor of Thyroid;malignant tumor of Thyroid gland;malignant tumor of the Thyroid;malignant tumor of the Thyroid gland;malignant tumour of thyroid gland;neoplasm of thyroid gland;thyroid gland cancer;thyroid gland neoplasm;thyroid neoplasm
Thyroid carcinoma	EFO_0002892	A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.;A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. A malignant neoplasm that develops or arises in the thyroid gland.Cancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope.	Thyroid Gland Carcinoma;cancer of Thyroid;cancer of the Thyroid;carcinoma of Thyroid;carcinoma of Thyroid gland;carcinoma of the Thyroid;carcinoma of the Thyroid gland;carcinoma of thyroid gland;head and neck cancer, Thyroid;thyroid cancer;thyroid carcinoma;thyroid gland cancer;thyroid gland carcinoma
Thyroid disease	EFO_1000627	A disease involving the thyroid gland.;A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages.	Thyroiditis;disease of thyroid gland;disease or disorder of thyroid gland;disorder of thyroid gland;thyroid disease;thyroid gland disease;thyroid gland disease or disorder;thyroid gland diseases;thyroid gland disorder;thyroid gland disorders
Thyroid function	EFO_0004296	Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body.	N/A
Thyroid gland adenocarcinoma	MONDO_0024622	An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).	thyroid adenocarcinoma;thyroid gland adenocarcinoma
Thyroid gland oncocytic follicular carcinoma	EFO_1000592	A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.	Hurthle cell Thyroid gland carcinoma;Hurthle cell carcinoma of Thyroid;Hurthle cell carcinoma of Thyroid gland;Hurthle cell carcinoma of the Thyroid;Hurthle cell carcinoma of the Thyroid gland;oncocytic carcinoma of Thyroid;oncocytic carcinoma of the Thyroid;thyroid Hurthle cell carcinoma;thyroid gland Hurthle cell carcinoma;thyroid gland oncocytic follicular carcinoma;thyroid oncocytic carcinoma
Thyroid gland undifferentiated (anaplastic) carcinoma	EFO_1000595	A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.	Dedifferentiated Thyroid gland carcinoma;anaplastic Thyroid cancer;anaplastic Thyroid carcinoma;anaplastic Thyroid gland carcinoma;anaplastic carcinoma of Thyroid;anaplastic carcinoma of Thyroid gland;anaplastic carcinoma of the Thyroid;anaplastic carcinoma of the Thyroid gland;anaplastic thyroid cancer;anaplastic thyroid carcinoma;metaplastic Thyroid gland carcinoma;pleomorphic Thyroid gland carcinoma;sarcomatoid Thyroid gland carcinoma;thyroid gland carcinosarcoma;thyroid gland undifferentiated (anaplastic) carcinoma;thyroid gland undifferentiated carcinoma;undifferentiated (anaplastic) Thyroid gland cancer;undifferentiated (anaplastic) Thyroid gland carcinoma;undifferentiated Thyroid carcinoma;undifferentiated Thyroid gland carcinoma;undifferentiated Thyroid tumor;undifferentiated carcinoma of Thyroid;undifferentiated carcinoma of Thyroid gland;undifferentiated carcinoma of the Thyroid;undifferentiated carcinoma of the Thyroid gland
Thyroiditis (disease)	MONDO_0004126	Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.	inflammation of thyroid gland;thyroid gland inflammation;thyroiditis
Thyroid lymphoma	MONDO_0019962	A lymphoma primarily involving the thyroid gland.	lymphoma of Thyroid;lymphoma of Thyroid gland;lymphoma of the Thyroid;lymphoma of the Thyroid gland;lymphoma of thyroid gland;primary Thyroid gland lymphoma;thyroid gland lymphoma;thyroid lymphoma
Thyroid neoplasm	EFO_0003841	A benign or malignant neoplasm affecting the thyroid gland.	Adenoma, Thyroid;NEOPL THYROID;Neoplasm, Thyroid;Neoplasms, Thyroid;THYROID NEOPL;Thyroid Gland Neoplasm;Thyroid Neoplasms;neoplasm of Thyroid;neoplasm of Thyroid gland;neoplasm of the Thyroid;neoplasm of the Thyroid gland;neoplasm of thyroid gland;thyroid gland neoplasm;thyroid gland neoplasm (disease);thyroid gland tumor;thyroid neoplasm;thyroid neoplasms;thyroid tumor;tumor of Thyroid;tumor of Thyroid gland;tumor of the Thyroid;tumor of the Thyroid gland;tumor of thyroid gland
Thyroid nodule	EFO_1001436	A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR).	Nodule of the Thyroid gland;Thyroid Nodule;Thyroid nodule;Thyroid nodule (disorder)
Thyroid peroxidase antibody measurement	EFO_0005666	quantification of the antibodies to the enzyme thyroid peroxidase in blood, usually as an indicator for autoimmune thyroid disease	N/A
Thyroid stimulating hormone measurement	EFO_0004748	Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid.	thyroid stimulating hormone level;thyroid stimulating hormone levels;thyrotropin measurement
Thyroid volume	EFO_0004865	Is a quantification of the volume of the thyroid.	N/A
Tic disorder	MONDO_0002420	Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)	N/A
Tick-borne infectious disease	MONDO_0025294	Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.	N/A
Tnf-related apoptosis-inducing ligand measurement	EFO_0008300	quantification of the amount of TNF-related apoptosis-inducing ligand in a sample	N/A
Togaviridae infectious disease	EFO_0007513	A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses.;Virus diseases caused by the togaviridae.	Togaviridae Infections;Togaviridae caused disease or disorder;Togaviridae disease or disorder;Togaviridae infectious disease
Tongue neoplasm	EFO_0003871	Tumors or cancer of the MOUTH.;Tumors or cancer of the TONGUE.	Cancer of Tongue;Cancer of the Tongue;Cancer, Oral;Cancer, Tongue;Cancers, Oral;Cancers, Tongue;NEOPL ORAL;NEOPL TONGUE;Neoplasm, Oral;Neoplasm, Tongue;Neoplasms, Oral;Neoplasms, Tongue;ORAL NEOPL;Oral Cancer;Oral Cancers;Oral Neoplasm;Oral Neoplasms;TONGUE NEOPL;Tongue Cancer;Tongue Cancers;Tongue Neoplasms
Tongue squamous cell carcinoma	EFO_1000055	A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.	N/A
Tonsillectomy risk measurement	EFO_0007924	Quantification an individual's risk of undergoing tonsillectomy. Some individuals experience recurrent, severe tonsillitis and massive hypertrophy of the tonsils in which case surgical removal of the tonsils may be considered. There are a number of genetic variants that may reduce the risk of tonsillectomy by conferring a protective effect.	N/A
Tooth agenesis	EFO_0005410	Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth).;Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.	familial tooth agenesis;hypodontia;oligodontia;selective tooth agenesis;tooth agenesis
Tooth disease	EFO_1001216	A disease involving the calcareous tooth.;Any disease of the teeth	calcareous tooth disease;calcareous tooth disease or disorder;dental disease;dental disorder;disease of calcareous tooth;disease of teeth;disease or disorder of calcareous tooth;disorder of calcareous tooth;tooth disease;tooth disorder
Tooth eruption	GO_0044691	N/A	N/A
Tooth hard tissue disease	MONDO_0002220	N/A	disorder of hard tissues of teeth
Total autosomal trisomy	Orphanet_98131	N/A	total autosomal trisomy
Total cholesterol measurement	EFO_0004574	A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL.	cholesterol, total;total cholesterol levels
Total iron binding capacity	EFO_0006334	The determination of the saturation of iron binding sites on serum transferrin proteins.	N/A
Tourette syndrome	EFO_0004895	A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.;A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)	Guinon's disease;Tourette syndrome;Tourette's syndrome;motor-verbal tic disorder;psychogenic tics
Toxemia of pregnancy	MONDO_0045048	A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.	toxemia of pregnancy
Toxic dermatosis	MONDO_0017396	N/A	N/A
Toxic diffuse goiter	MONDO_0001104	N/A	N/A
Toxic encephalopathy	EFO_0005595	A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.;Toxic encephalopathy is a degenerative neurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms.	neurotoxicity;neurotoxicity syndrome;toxic encephalopathy
Toxic epidermal necrolysis	EFO_0004775	An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure.;Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.	Lyell syndrome;Lyell's syndrome;SJS-TEN;TEN;toxic epidermal necrolysis;toxic epidermolysis
Toxoplasmosis	EFO_0007517	A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.;A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.	Toxoplasma gondii caused disease or disorder;Toxoplasma gondii disease or disorder;Toxoplasma gondii infectious disease;Toxoplasmosis;disseminated toxoplasmosis;toxoplasmosis
Tracheal disease	MONDO_0002567	A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.	disease of trachea;disease or disorder of trachea;disorder of trachea;trachea disease;trachea disease or disorder;tracheal disorder
Transferrin saturation measurement	EFO_0006333	The determination of the iron bound to transferrin in a sample.	N/A
Transforming growth factor beta measurement	EFO_0004818	Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis.	N/A
Transient ischemic attack	EFO_0003764	A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.;Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)	Anterior Circulation Transient Ischemic Attack;Attack, Transient Ischemic;Attacks, Transient Ischemic;Brain Stem Ischemia, Transient;Brain Stem Transient Ischemic Attack;Brain TIA;Brainstem Ischemia, Transient;Brainstem Ischemias, Transient;Brainstem Transient Ischemic Attack;Carotid Circulation Transient Ischemic Attack;Cerebral Ischemia, Transient;Cerebral Ischemias, Transient;Crescendo Transient Ischemic Attacks;Ischemia, Transient Brainstem;Ischemia, Transient Cerebral;Ischemias, Transient Brainstem;Ischemias, Transient Cerebral;Ischemic Attack, Transient;Ischemic Attacks, Transient;Posterior Circulation Transient Ischemic Attack;TIA;TIA (Transient Ischemic Attack);TIA - Transient ischaemic attack;TIA - transient ischaemic attack;TIA, Brain;TIAs (Transient Ischemic Attack);Transient Brainstem Ischemia;Transient Cerebral Ischemia;Transient Cerebral Ischemias;Transient Ischemic Attack, Anterior Circulation;Transient Ischemic Attack, Brain Stem;Transient Ischemic Attack, Brainstem;Transient Ischemic Attack, Carotid Circulation;Transient Ischemic Attack, Posterior Circulation;Transient Ischemic Attack, Vertebrobasilar Circulation;Transient Ischemic Attacks;Transient Ischemic Attacks, Crescendo;Transient cerebral ischaemia;Transient cerebral ischaemia NOS;Transient cerebral ischemia (disorder) [Ambiguous];Transient ischemic attacks (disorder);Vertebrobasilar Circulation Transient Ischemic Attack;attack, transient ischemic;ischemic attack, transient;transient cerebral ischaemia;transient cerebral ischemia (disorder) [ambiguous];transient ischemic attack;transient ischemic attack (disease);transient ischemic attacks
Transient neonatal diabetes mellitus	Orphanet_99886	Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.	TNDM;transient neonatal diabetes mellitus;transient neonatal diabetes mellitus (disease)
Transitional cell carcinoma	EFO_1000601	A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.	carcinoma of transitional epithelial cell;carcinoma of urothelial cell;carcinoma, urothelial, malignant;transitional carcinoma;transitional cell carcinoma;transitional cell tumor;transitional epithelial cell carcinoma;urothelial cell carcinoma
Transitional cell neoplasm	MONDO_0037254	N/A	transitional cell neoplasm;transitional cell tumor
Transposition of the great arteries and conotruncal cardiac anomaly	MONDO_0020285	N/A	N/A
Triglyceride measurement	EFO_0004530	A triglyceride  measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease.	triglyceride levels
Triple-negative breast cancer	EFO_0005537	An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).;an aggressive subtype of breast cancer that is estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative	TN breast cancer;Triple-Negative Breast Carcinoma;triple-negative breast cancer;triple-negative breast carcinoma;triple-receptor negative breast cancer
Trisomy 13	Orphanet_3378	Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.	Patau syndrome;trisomy 13;trisomy type 13
Trophoblastic neoplasm	MONDO_0002872	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.	neoplasm of trophoblast;trophoblast neoplasm;trophoblast neoplasm (disease);trophoblast tumor;trophoblastic neoplasm;trophoblastic neoplasm (morphologic abnormality);trophoblastic neoplasm NOS (morphologic abnormality);trophoblastic neoplasms;trophoblastic tumor;trophoblastic tumor (qualifier value);tumor of trophoblast
Tropical spastic paraparesis	EFO_0007527	A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms.;Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.	HTLV-1-associated myelopathy/tropical spastic paraparesis;HTLV-associated myelopathy;Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis;Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis;Paraparesis, Tropical Spastic;TSP;Tropical spastic paralysis;Tropical spastic paraplegia;ham/TSP;tropical spastic paralysis;tropical spastic paraparesis;tropical spastic paraplegia
Trypanosomiasis	DOID_10113	A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.	N/A
T-tau measurement	EFO_0004760	Is a quantification of total tau protein, a biomarker for Alzheimer's disease.	N/A
Tuberculosis	Orphanet_3389	Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.	N/A
Tuberous sclerosis complex	Orphanet_805	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.	Bourneville syndrome;Bourneville's disease;Epiloia;TSC;Tuberous sclerosis complex;cerebral sclerosis;tuberose sclerosis;tuberous sclerosis;tuberous sclerosis syndrome
Tumor necrosis factor-alpha measurement	EFO_0004684	Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample.	N/A
Tumor necrosis factor receptor superfamily member edar measurement	EFO_0008310	quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample	N/A
Tumor of adipose tissue	MONDO_0021354	A neoplasm (disease) that involves the adipose tissue.	adipose tissue neoplasm;adipose tissue neoplasm (disease);adipose tissue tumor;lipomatous neoplasm;lipomatous tumor;neoplasm of adipose tissue;neoplasm of the adipose tissue;tumor of adipose tissue;tumor of the adipose tissue
Tumor of cranial and spinal nerves	MONDO_0016749	N/A	rare tumor of cranial and spinal nerves
Tumor of duodenum	MONDO_0021375	A neoplasm (disease) that involves the duodenum.	duodenal neoplasm;duodenal tumor;duodenum neoplasm;duodenum neoplasm (disease);duodenum tumor;neoplasm of duodenum;neoplasm of the duodenum;tumor of duodenum;tumor of the duodenum
Tumor of parathyroid gland	MONDO_0021360	A neoplasm (disease) that involves the parathyroid gland.	neoplasm of parathyroid;neoplasm of parathyroid gland;neoplasm of the parathyroid;neoplasm of the parathyroid gland;parathyroid gland neoplasm;parathyroid gland neoplasm (disease);parathyroid gland tumor;parathyroid neoplasm;parathyroid tumor;tumor of parathyroid;tumor of parathyroid gland;tumor of the parathyroid;tumor of the parathyroid gland
Tumor of testis and paratestis	MONDO_0018191	N/A	testicular and paratesticular tumor
Tumor of uterus	MONDO_0021353	A neoplasm (disease) that involves the uterus.	neoplasm of the uterus;neoplasm of uterus;tumor of the uterus;tumor of uterus;uterine neoplasm;uterine neoplasms;uterine tumor;uterus neoplasm;uterus neoplasm (disease);uterus tumor
Tumour of cranial and spinal nerves	EFO_0002431	A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.;Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)	Neoplasm of PNS;Neoplasm of Peripheral Nerve;Neoplasm of Peripheral Nervous System;Neoplasm of the PNS;Neoplasm of the Peripheral Nerve;Neoplasm of the Peripheral Nervous System;Neoplasm, Peripheral Nerve;Neoplasms, PNS;Neoplasms, Peripheral Nerve;Neoplasms, Peripheral Nervous System;Nerve Neoplasm, Peripheral;Nerve Neoplasms, Peripheral;Nerve Tumor, Peripheral;Nerve Tumors, Peripheral;PERIPHERAL NERVE NEOPL;PERIPHERAL NERVE NEOPL BENIGN;PERIPHERAL NERVE NEOPL INFILTRATION;PERIPHERAL NERVE NEOPL MALIGNANT;PNS BENIGN NEOPL;PNS MALIGNANT NEOPL;PNS NEOPL;PNS Neoplasm;PNS Neoplasms;PNS Tumor;Peripheral Nerve Neoplasm;Peripheral Nerve Neoplasms;Peripheral Nerve Neoplasms, Benign;Peripheral Nerve Neoplasms, Malignant;Peripheral Nerve Neoplastic Infiltration;Peripheral Nerve Tumor;Peripheral Nerve Tumors;Peripheral Nervous System Benign Neoplasms;Peripheral Nervous System Malignant Neoplasms;Peripheral Nervous System Neoplasm;Peripheral Nervous System Neoplasms;Peripheral Nervous System Tumor;Tumor of PNS;Tumor of Peripheral Nerve;Tumor of Peripheral Nervous System;Tumor of the PNS;Tumor of the Peripheral Nerve;Tumor of the Peripheral Nervous System;Tumor, Peripheral Nerve;Tumors, Peripheral Nerve;peripheral nervous system cancer
Type 1 diabetes nephropathy	EFO_0004996	Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy.	type 1 diabetes nephropathy
Type 1 interferonopathy	MONDO_0018782	N/A	N/A
Type 2 collagen-related bone disorder	Orphanet_93421	N/A	type 2 collagen-related bone disorder
Type i diabetes mellitus	EFO_0001359	A chronic condition characterized by minimal or absent production of insulin by the pancreas.;A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.;An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas.;Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.	Autoimmune Diabete;Autoimmune Diabetes;Brittle Diabetes Mellitus;DIABETES MELLITUS TYPE 01;DMI UNSPF NT ST UNCNTRLD;DMI UNSPF UNCNTRLD;Diabete, Autoimmune;Diabetes Mellitus, Brittle;Diabetes Mellitus, Insulin Dependent;Diabetes Mellitus, Insulin-Dependent;Diabetes Mellitus, Juvenile Onset;Diabetes Mellitus, Juvenile-Onset;Diabetes Mellitus, Ketosis Prone;Diabetes Mellitus, Ketosis-Prone;Diabetes Mellitus, Sudden Onset;Diabetes Mellitus, Sudden-Onset;Diabetes Mellitus, Type 1;Diabetes Mellitus, Type I;Diabetes mellitus type 1;Diabetes mellitus type 1 (disorder);Diabetes mellitus type I;Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication;Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication;Diabetes, Autoimmune;IDDM;IDDM - Insulin-dependent diabetes mellitus;Insulin Dependent Diabetes;Insulin dependent diabetes mellitus;Insulin-Dependent Diabetes Mellitus;Juvenile Diabetes;Juvenile onset diabetes mellitus;Juvenile-Onset Diabetes Mellitus;Ketosis-Prone Diabetes Mellitus;Mellitus, Sudden-Onset Diabetes;Sudden-Onset Diabetes Mellitus;Type 1 Diabetes;Type 1 Diabetes Mellitus;Type I Diabetes;diabetes mellitis type 1;diabetes mellitis type I;immune mediated diabetes;insulin dependent diabetes;insulin dependent diabetes mellitus;insulin-dependent diabetes mellitus;juvenile diabetes;type 1 diabetes;type 1 diabetes mellitus;type I diabetes;type I diabetes mellitus
Type ii diabetes mellitus	EFO_0001360	A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.;A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.	Adult-Onset Diabetes;Adult-Onset Diabetes Mellitus;DIABETES MELLITUS TYPE 02;Diabetes Mellitus, Adult Onset;Diabetes Mellitus, Adult-Onset;Diabetes Mellitus, Ketosis Resistant;Diabetes Mellitus, Ketosis-Resistant;Diabetes Mellitus, Maturity Onset;Diabetes Mellitus, Maturity-Onset;Diabetes Mellitus, Non Insulin Dependent;Diabetes Mellitus, Non-Insulin-Dependent;Diabetes Mellitus, Noninsulin Dependent;Diabetes Mellitus, Slow Onset;Diabetes Mellitus, Slow-Onset;Diabetes Mellitus, Stable;Diabetes Mellitus, Type 2;Diabetes Mellitus, Type II;Diabetes, Type 2;Ketosis-Resistant Diabetes Mellitus;MODY;Maturity Onset Diabetes Mellitus;Maturity-Onset Diabetes Mellitus;NIDDM;Non-Insulin Dependent Diabetes;Non-Insulin Dependent Diabetes Mellitus;Slow-Onset Diabetes Mellitus;Stable Diabetes Mellitus;T2DM - Type 2 Diabetes mellitus;T2DM - type 2 diabetes mellitus;Type 2 Diabetes;Type 2 Diabetes Mellitus;Type 2 Diabetes Mellitus Non-Insulin Dependent;Type II Diabetes;adult onset diabetes;adult-onset diabetes;diabetes mellitis type 2;diabetes mellitis type II;diabetes mellitus type 2;diabetes, type 2;non-insulin dependent diabetes;non-insulin dependent diabetes mellitus;non-insulin-dependent diabetes mellitus;noninsulin dependent diabetes;type 2 diabetes;type 2 diabetes mellitus;type 2 diabetes mellitus non-insulin dependent;type II diabetes;type II diabetes mellitus
Type ii hypersensitivity reaction disease	EFO_0005809	A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).;Type II hypersenstivity disease is an immune system disease in which an abnormal inflammatory response results in disease.	autoimmune disease;autoimmune disease or disorder;autoimmune disorder;disease, autoimmune
Type iv hypersensitivity disease	MONDO_0002459	A disease that has its basis in the disruption of type IV hypersensitivity.	DTH;delayed hypersensitivity reaction;delayed-type hypersensitivity;delayed-type hypersensitivity response;disorder of type IV hypersensitivity;type 4 hypersensitivity reaction;type IV hypersensitivity;type IV hypersensitivity reaction
Tyrosinemia	MONDO_0004741	An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.	N/A
Tyrosinemia type 1	Orphanet_882	Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.	FAH deficiency;Fumarylacetoacetase deficiency;Fumarylacetoacetate hydrolase deficiency;Hepatorenal tyrosinemia;Tyrosinemia type I
Tyrosine-protein kinase receptor tie-1, soluble measurement	EFO_0008312	quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample	N/A
Ulcerative colitis	EFO_0000729	An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.;Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.	Colitis, Ulcerative;Left-sided ulcerative (chronic) colitis;Left-sided ulcerative colitis;Other ulcerative colitis;Other ulcerative colitis (disorder);UC - ulcerative colitis;ULCERATVE COLITIS UNSPCF;Ulcerative colitis, unspecified;colitis ulcerative;ulcerative colitis;ulcerative colitis (disease);ulcerative colitis (disorder)
Ulcer disease	MONDO_0043839	A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.	ulcer;ulceration;ulcerative;ulcers
Unclassified acute myeloid leukemia	MONDO_0015667	Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.	AML, NOS;acute myeloid leukemia;acute myeloid leukemia NOS;acute myeloid leukemia not otherwise categorized;acute myeloid leukemia not otherwise specified;acute myeloid leukemia, NOS;unclassified AML
Unclassified autoinflammatory syndrome	MONDO_0017957	N/A	N/A
Unclassified primitive or secondary maculopathy	Orphanet_98666	N/A	unclassified primitive or secondary maculopathy
Underweight body mass index status	EFO_0005936	quantification of weight/height relationships below a certain threshold that classes an individual as underweight. This threshold may vary based on an individual's ethnicity but is commonly considered in European populations to correspond to a BMI < 18	underweight BMI status
Undifferentiated carcinoma	EFO_0006772	A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.	anaplastic carcinoma;carcinoma, undifferentiated;carcinoma, undifferentiated, malignant;undifferentiated carcinoma
Unipolar depression	EFO_0003761	A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts.	DEPRESSIVE DIS;DEPRESSIVE DIS MAJOR;Depression;Depression, Emotional;Depression, Endogenous;Depression, Involutional;Depression, Neurotic;Depression, Unipolar;Depressions;Depressions, Emotional;Depressions, Endogenous;Depressions, Neurotic;Depressions, Unipolar;Depressive Disorder;Depressive Disorder, Major;Depressive Disorders;Depressive Disorders, Major;Depressive Neuroses;Depressive Neurosis;Depressive Symptom;Depressive Symptoms;Depressive Syndrome;Depressive Syndromes;Disorder, Depressive;Disorder, Major Depressive;Disorders, Depressive;Disorders, Major Depressive;Emotional Depression;Emotional Depressions;Endogenous Depression;Endogenous Depressions;Involutional Depression;Involutional Psychoses;Involutional Psychosis;MAJOR DEPRESSIVE DIS;Major Depressive Disorders;Neuroses, Depressive;Neurosis, Depressive;Neurotic Depression;Neurotic Depressions;Paraphrenia, Involutional;Psychoses, Involutional;Psychosis, Involutional;Symptom, Depressive;Symptoms, Depressive;Syndrome, Depressive;Syndromes, Depressive;Unipolar Depressions;major depression;major depressive disorder;unipolar depression
Upper digestive tract disease	MONDO_0044991	A disease or disorder that involves the upper digestive tract.	disease of upper digestive tract;disease or disorder of upper digestive tract;disorder of upper digestive tract;disorder of upper gastrointestinal tract;upper digestive tract disease or disorder;upper gastrointestinal tract disease
Upper respiratory tract disease	MONDO_0004867	A disease involving the upper respiratory tract.	disease of upper respiratory tract;disease or disorder of upper respiratory tract;disorder of upper respiratory tract;upper respiratory tract disease;upper respiratory tract disease or disorder
Urate measurement	EFO_0004531	A urate measurement is the quantification of some urate in body fluid	urate levels
Uremic neuropathy	DOID_4675	N/A	N/A
Ureteral disease	MONDO_0001926	A non-neoplastic or neoplastic disorder affecting the ureter.	disease of ureter;disease or disorder of ureter;disorder of ureter;ureter disease;ureter disease or disorder;ureter disorder;ureteric disease;ureteric disorder
Ureteral neoplasm	EFO_0003844	Tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom.	NEOPL URETER;NEOPL URETERAL;Neoplasm, Ureteral;Neoplasms of Ureter;Neoplasms, Ureteral;URETER NEOPL;URETERAL NEOPL;Ureter Neoplasm;Ureter Neoplasms;Ureteral Neoplasms
Ureter cancer	MONDO_0008627	A malignant neoplasm involving the ureter	cancer of ureter;malignant neoplasm of the ureter;malignant neoplasm of ureter;malignant tumor of the ureter;malignant tumor of ureter;malignant tumour of ureter;malignant ureter neoplasm;malignant ureter tumor;malignant ureteral neoplasm;malignant ureteral tumor;ureter cancer
Ureter carcinoma	EFO_1000609	A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. --2003;A carcinoma that arises from epithelial cells of the ureter.	carcinoma of the ureter;carcinoma of ureter;ureter cancer;ureter carcinoma;ureteral carcinoma
Ureter neoplasm	MONDO_0021111	A benign or malignant neoplasm that affects the ureter.	neoplasm of the ureter;neoplasm of ureter;neoplasms of the ureter;neoplasms of ureter;tumor of the ureter;tumor of ureter;ureter neoplasm;ureter neoplasm (disease);ureter tumor;ureteral neoplasm;ureteral tumor
Ureter urothelial carcinoma	EFO_1001973	A carcinoma that arises from the transitional epithelium of the ureter.	transitional cell carcinoma of ureter;ureter transitional cell carcinoma;ureter urothelial carcinoma;ureteral transitional cell carcinoma;ureteral urothelial cell carcinoma
Uric acid measurement	EFO_0004761	Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease.	uric acid level;uric acid levels
Urinary albumin to creatinine ratio	EFO_0007778	quantification of the ratio of albumin to creatinine in a urine sample	N/A
Urinary bladder cancer	MONDO_0001187	A primary or metastatic malignant neoplasm involving the bladder.	bladder cancer;cancer of urinary bladder;malignant bladder neoplasm;malignant bladder tumor;malignant neoplasm of bladder;malignant neoplasm of the bladder;malignant neoplasm of the urinary bladder;malignant neoplasm of urinary bladder;malignant neoplasm, bladder;malignant neoplasm, urinary bladder;malignant tumor of bladder;malignant tumor of the bladder;malignant tumor of the urinary bladder;malignant tumor of urinary bladder;malignant tumor, urinary bladder;malignant urinary bladder neoplasm;malignant urinary bladder tumor;urinary bladder cancer;urinary bladder malignant neoplasm;urinary bladder malignant tumor
Urinary metabolite measurement	EFO_0005116	quantification of some metabolite in urine	N/A
Urinary nitrogen measurement	EFO_0005190	N/A	N/A
Urinary system disease	EFO_0009690	A disease involving the renal system.;A disease involving the renal system. [database_cross_reference: MONDO:DesignPattern]	disease of renal system;disease or disorder of renal system;disorder of renal system;disorder of the urinary system;disorder of urinary system;non-neoplastic urinary tract disease;renal disease;renal system disease;renal system disease or disorder;urinary system disease;urinary tract disease;urinary tract disorder;urologic disorder;urological disorders
Urinary system neoplasm	MONDO_0021066	A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003	neoplasm of renal system;neoplasm of the urinary system;neoplasm of the urinary tract;neoplasm of urinary system;neoplasm of urinary tract;renal system neoplasm;renal system neoplasm (disease);renal system tumor;tumor of renal system;tumor of the urinary system;tumor of the urinary tract;tumor of urinary system;tumor of urinary tract;urinary system neoplasm;urinary system tumor;urinary tract neoplasm;urinary tract tumor
Urinary uromodulin measurement	EFO_0005663	quantification of the glycoprotein uromodulin in urine	urinary Tamm-Horsfall glycoprotein measurement
Urogenital neoplasm	EFO_0003863	Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.;Tumors or cancer of the urogenital system in either the male or the female.	Cancer, Genito-urinary;Cancer, Genitourinary;Cancer, Urogenital;Cancers, Genito-urinary;Cancers, Genitourinary;Cancers, Urogenital;GENITO URINARY NEOPL;GENITOURINARY NEOPL;Genito urinary Cancer;Genito-urinary Cancer;Genito-urinary Cancers;Genito-urinary Neoplasm;Genito-urinary Neoplasms;Genitourinary Cancer;Genitourinary Cancers;Genitourinary Neoplasm;Genitourinary Neoplasms;NEOPL GENITOURINARY;NEOPL UROGENITAL;Neoplasm, Genito-urinary;Neoplasm, Genitourinary;Neoplasm, Urogenital;Neoplasms, Genito-urinary;Neoplasms, Genitourinary;Neoplasms, Urogenital;UROGENITAL NEOPL;Urogenital Cancer;Urogenital Cancers;Urogenital Neoplasms;genitourinary system neoplasm;genitourinary system tumor;neoplasm of genitourinary system;tumor of genitourinary system;urogenital neoplasm
Urothelial carcinoma	EFO_0008528	A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis).;A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.	Uroepithelial carcinoma;transitional cell car. -uroth;transitional cell car. -uroth.;transitional cell carcinoma of the urinary tract;transitional cell carcinoma of the urothelial tract;uroepithelial carcinoma;urothelial carcinoma
Urothelial neoplasm	MONDO_0024337	A neoplasm involving a urothelium.	neoplasm of urothelium;transitional cell neoplasm of the urinary tract;tumor of urothelium;urothelial neoplasm;urothelium neoplasm;urothelium neoplasm (disease);urothelium tumor
Uterine benign neoplasm	MONDO_0000632	A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.	Uterous neoplasms, benign;Uterous tumors, benign;benign neoplasm of the uterus;benign neoplasm of uterus;benign tumor of the uterus;benign tumor of uterus;benign uterine neoplasm;benign uterine neoplasms;benign uterine tumor;benign uterine tumors;benign uterus neoplasm;benign uterus neoplasms;benign uterus tumor;benign uterus tumors;uterine neoplasms, benign;uterine tumors, benign;uterus benign neoplasm
Uterine cancer	MONDO_0002715	Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.	CA - cancer of uterus;cancer of the uterus;cancer of uterus;malignant neoplasm of the uterus;malignant neoplasm of uterus;malignant tumor of the uterus;malignant tumor of uterus;malignant uterine neoplasm;malignant uterine tumor;malignant uterus neoplasm;uterine cancer;uterus cancer
Uterine carcinoma	EFO_0002919	A carcinoma involving a uterus.;Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation.	carcinoma of uterus;uterine adenocarcinoma;uterine carcinoma;uterus carcinoma
Uterine carcinosarcoma	EFO_1000613	A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.;A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.	Retroviridae Infections;carcinosarcoma of the uterus;malignant mixed mesodermal (Mullerian) tumor of the uterus;malignant mixed mesodermal (Müllerian) tumor of the uterus;mixed mullerian sarcoma of uterus;uterine carcinosarcoma;uterine malignant mixed mesodermal (Mullerian) tumor;uterine malignant mixed mesodermal (Müllerian) tumor;uterus carcinosarcoma
Uterine cervix neoplasm	MONDO_0021230	A neoplasm (disease) that involves the uterine cervix.	Cervical neoplasm;cervical tumor;cervix neoplasm;cervix tumor;cervix uteri neoplasm;cervix uteri tumor;neoplasm of cervix;neoplasm of cervix uteri;neoplasm of the cervix;neoplasm of the cervix uteri;neoplasm of the uterine cervix;neoplasm of uterine cervix;tumor of cervix;tumor of cervix uteri;tumor of the cervix;tumor of the cervix uteri;tumor of the uterine cervix;tumor of uterine cervix;uterine cervix neoplasm (disease);uterine cervix tumor
Uterine corpus cancer	EFO_0007532	A malignant neoplasm involving the body of uterus.;A uterine cancer that is located_in the uterine corpus.	Dientamoebiasis;body of uterus cancer;cancer of body of uterus;cancer of the corpus uteri;corpus uteri cancer;endometrial cancer;malignant body of uterus neoplasm;malignant neoplasm of body of uterus;uterine (including endometrial) cancer;uterine corpus cancer
Uterine corpus endometrial carcinoma	DOID_0050939	A uterine corpus cancer that is derives_from the inner lining of the uterus.	N/A
Uterine corpus endometrial stromal sarcoma	DOID_4227	N/A	uterine corpus endometrial stromal tumor
Uterine disease	MONDO_0002654	A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.	disease of uterus;disease or disorder of uterus;disorder of uterus;uterine disease;uterine disorder;uterus disease;uterus disease or disorder
Uterine fibroid	EFO_0000731	A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.;A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.;An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.	Body of Uterus Fibroid;Body of Uterus Leiomyoma;Corpus Uteri Fibroid;Corpus Uteri Leiomyoma;Fibroid;Fibroid Tumor;Fibroid Tumors;Fibroid of Body of Uterus;Fibroid of Corpus Uteri;Fibroid of Uterine Body;Fibroid of Uterine Corpus;Fibroid of the Body of Uterus;Fibroid of the Corpus Uteri;Fibroid of the Uterine Body;Fibroid of the Uterine Corpus;Fibroid uterus;Fibroid, Uterine;Fibroids;Fibroids, Uterine;Fibroleiomyoma;Fibroma, Uterine;Fibromas, Uterine;Fibromyoma;Fibromyomas;Leiomyofibroma;Leiomyoma of Body of Uterus;Leiomyoma of Uterine Body;Leiomyoma of Uterine Corpus;Leiomyoma of the Body of Uterus;Leiomyoma of the Corpus Uteri;Leiomyoma of the Uterine Body;Leiomyoma of the Uterine Corpus;Leiomyoma, NOS;Leiomyoma, no ICD-O subtype;Leiomyoma, no ICD-O subtype (morphologic abnormality);Lipoleiomyoma;Myofibroma;Plexiform leiomyoma;Tumor, Fibroid;Tumors, Fibroid;UTERINE LEIOMYOMA NOS;UTERUS FIBROMA;Uterine Body Fibroid;Uterine Body Leiomyoma;Uterine Corpus Fibroid;Uterine Corpus Leiomyoma;Uterine Corpus Leiomyomata;Uterine Fibroma;Uterine Fibromas;Uterine fibroids;Uterine leiomyoma;Uterine leiomyoma (disorder);Uterine leiomyoma - fibroids;Uterine leiomyoma, NOS;Uterus, Fibroid;body of uterus fibroid;body of uterus leiomyoma;corpus uteri fibroid;corpus uteri leiomyoma;fibroid of body of uterus;fibroid of corpus uteri;fibroid of the body of uterus;fibroid of the corpus uteri;fibroid of the uterine body;fibroid of the uterine corpus;fibroid of uterine body;fibroid of uterine corpus;leiomyoma of Corpus Uteri;leiomyoma of body of uterus;leiomyoma of corpus uteri;leiomyoma of the body of uterus;leiomyoma of the corpus uteri;leiomyoma of the uterine body;leiomyoma of the uterine corpus;leiomyoma of uterine body;leiomyoma of uterine corpus;leiomyoma of uterus, unspecified;plexiform leiomyoma;uterine body fibroid;uterine body leiomyoma;uterine corpus fibroid;uterine corpus leiomyoma;uterine corpus leiomyomata;uterine fibroid;uterine leiomyoma NOS (disorder)
Uterine leiomyosarcoma	EFO_1001974	An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.	Body of Uterus Leiomyosarcoma;Corpus Uteri Leiomyosarcoma;Leiomyosarcoma - uterus;Leiomyosarcoma of Body of Uterus;Leiomyosarcoma of Corpus Uteri;Uterine Corpus Leiomyosarcoma;body of uterus leiomyosarcoma;corpus uteri leiomyosarcoma;leiomyosarcoma - uterus;leiomyosarcoma of body of uterus;leiomyosarcoma of corpus uteri;leiomyosarcoma of the body of uterus;leiomyosarcoma of the corpus uteri;leiomyosarcoma of the uterine body;leiomyosarcoma of the uterine corpus;leiomyosarcoma of the uterus;leiomyosarcoma of uterine body;leiomyosarcoma of uterine corpus;leiomyosarcoma of uterus;uterine body leiomyosarcoma;uterine corpus leiomyosarcoma
Uterine neoplasm	EFO_0003859	Tumors of the UTERUS.	NEOPL UTERINE;NEOPL UTERUS;Neoplasm, Uterine;Neoplasm, Uterus;Neoplasms, Uterine;Neoplasms, Uterus;UTERINE NEOPL;UTERUS NEOPL;Uterine Neoplasms;Uterus Neoplasm;Uterus Neoplasms
Uterine sarcoma	EFO_0002914	A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.;Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus.	Uterine Corpus Sarcoma;body of uterus sarcoma;corpus uteri sarcoma;sarcoma of body of uterus;sarcoma of corpus uteri;sarcoma of the body of uterus;sarcoma of the corpus uteri;sarcoma of the uterine body;sarcoma of the uterine corpus;sarcoma of uterine body;sarcoma of uterine corpus;sarcoma of uterus;uterine body sarcoma;uterine corpus sarcoma;uterus sarcoma
Uterovaginal malformation	MONDO_0015828	N/A	N/A
Uveal cancer	EFO_1001230	A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.;Tumors or cancer of the UVEA.	Uveal Neoplasms;Uveal tumor;cancer of uvea;malignant Uveal tumor;malignant neoplasm of the uvea;malignant neoplasm of uvea;malignant tumor of the uvea;malignant tumor of uvea;malignant uvea neoplasm;malignant uvea tumor;malignant uveal neoplasm;malignant uveal tumor;uvea cancer;uveal cancer;uveal tumor
Uveal disease	MONDO_0002661	A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.	disease of uvea;disease or disorder of uvea;disorder of uvea;uvea disease;uvea disease or disorder;uveal disease;uveal disorder;uveal tract disease
Uveal melanoma	EFO_1000616	A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.	choroidal melanoma;intraocular melanoma;iris melanoma;melanoma (disease) of uvea;melanoma of the uvea;melanoma of uvea;melanoma, uveal, malignant;uvea melanoma;uvea melanoma (disease);uveal melanoma
Uvea neoplasm	MONDO_0021225	A neoplasm (disease) that involves the uvea.	neoplasm of the uvea;neoplasm of uvea;tumor of the uvea;tumor of uvea;uvea neoplasm (disease);uvea tumor;uveal neoplasm;uveal tumor
Uveitis	EFO_1001231	An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.;inflammation of one or all portions of the uveal tract	inflammation of uvea;uvea inflammation;uveitis;uveitis (disease)
Variable age onset epilepsy	MONDO_0100036	An epilepsy syndrome that has an onset during variable ages and stages of life.	N/A
Variant of guillain-barre syndrome	MONDO_0016493	N/A	variant of GBS
Varicella zoster infection	EFO_0006509	A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.	Varicella-zoster Virus infection;varicella zoster infection
Vascular anomaly	MONDO_0019063	N/A	N/A
Vascular bone neoplasm	MONDO_0024499	A benign, intermediate, or malignant vascular neoplasm that arises from the bone.	bone vascular neoplasm;bone vascular tumor;osseous vascular neoplasm;osseous vascular tumor;vascular bone neoplasm;vascular neoplasm of bone;vascular neoplasm of the bone;vascular tumor of bone;vascular tumor of the bone
Vascular brain injury	EFO_0006791	damage to the blood vessels of the brain	vascular brain injury
Vascular cancer	MONDO_0002095	A malignant neoplasm arising from the blood vessels.	blood vessel tumor;blood vessel tumors;cancer of vasculature;malignant blood vessel neoplasm;malignant blood vessel tumor;malignant great vessel tumor;malignant neoplasm of vasculature;malignant vascular neoplasm;malignant vascular tumor;malignant vasculature neoplasm;pulmonary artery cancer;vasculature cancer
Vascular dementia	EFO_0004718	A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.;An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)	Arteriosclerotic Dementias;Dementias, Vascular;Vascular Dementias;vascular dementia
Vascular disease	EFO_0004264	A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma.;Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body.	disease of vasculature;disease or disorder of vasculature;disorder of vasculature;vascular disease;vascular diseases;vascular disorder;vascular tissue disease;vasculature disease;vasculature disease or disorder
Vascular ectasia	MONDO_0021658	N/A	vascular ectasia
Vascular endothelial growth factor measurement	EFO_0004762	Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer.	N/A
Vascular insufficiency disorder	MONDO_0020674	N/A	vascular insufficiency
Vascular malformation	EFO_0006888	A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.	N/A
Vascular myelopathy	DOID_320	N/A	vascular myelopathies
Vascular neoplasm	MONDO_0024296	A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.	neoplasm of vascular system;neoplasm of vascular tissue;neoplasms, vascular;tumor of vascular system;tumor of vascular tissue;tumors, vascular;vascular neoplasm;vascular neoplasms;vascular system neoplasm;vascular system neoplasm (disease);vascular system tumor;vascular tissue neoplasm;vascular tissue tumor;vascular tumor;vascular tumors
Vascular occlusion disorder	MONDO_0020672	A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.	vascular occlusion
Vascular sarcoma	EFO_0003967	A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries.	Malignant Blood Vessel Neoplasm
Vascular smooth muscle hypertrophy	EFO_0009829	Increase in size or thickness of the smooth muscle of the vascular wall.	N/A
Vasculitis	EFO_0006803	A group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. ;Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease, see this term) to relatively minor skin disease.	vasculitis
Vasoactive peptide measurement	EFO_0005196	quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease	N/A
Vasomotor rhinitis	EFO_0007533	A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food.;Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.	Rhinitis, Vasomotor;Vasomotor Rhinitis;Vasomotor rhinitis;Vasomotor rhinitis (disorder);vasomotor rhinitis
Velocity of sound measurement	EFO_0005654	quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone	N/A
Venezuelan equine encephalitis	EFO_0007534	A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.;A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region.	Encephalomyelitis, Venezuelan Equine;Venezuelan equine encephalitis;Venezuelan equine encephalitis virus caused disease or disorder;Venezuelan equine encephalitis virus disease or disorder;Venezuelan equine encephalitis virus infectious disease
Venous thromboembolism	EFO_0004286	Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream.;Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.	venous thromboembolism
Ventricular septal defect	Orphanet_1480	A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.	Heart Septal Defects, Ventricular;Interventricular communication;Interventricular septal defect;VSD;Ventricular septal abnormality
Vertebral column disease	MONDO_0000812	A disease involving the vertebral column.	disease of spine;disease of vertebral column;disease or disorder of vertebral column;disorder of vertebral column;vertebral column disease;vertebral column disease or disorder
Vertebral disease	MONDO_0045002	A disease or disorder that involves the vertebra.	disease of vertebra;disease or disorder of vertebra;disorder of vertebra;vertebra disease;vertebra disease or disorder
Vertebral joint disease	EFO_0009477	A disease that involves one or more intervertebral joints.;A disease that involves the intervertebral joint.	disc problem;disease of intervertebral joint;disease or disorder of intervertebral joint;disorder of intervertebral joint;disorder of joint of spine;intervertebral joint disease;intervertebral joint disease or disorder;vertebral joint disease
Very long-chain saturated fatty acid measurement	EFO_0006796	The determination of the amount of very long-chain saturated fatty acids present in a sample. VLSFAs are fatty acids with 20 or more carbons.	N/A
Vesiculobullous skin disease	EFO_1000774	Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990);Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)	Skin Diseases, Vesiculobullous;vesiculobullous skin disease
Viral disease	EFO_0000763	A viral disease is a disease factor that is caused primarily by the infection or otherwise hosting of a virus.;Any disease caused by a virus.	Viruses caused disease or disorder;Viruses disease or disorder;Viruses infection;Viruses infectious disease;infection, viral;viral disease;viral disorder;viral infection;viral infectious disease;virus infection
Viral encephalitis	EFO_0007538	An encephalitis that involves inflammation of the brain caused by viral infection.;Encephalitis resulting from viral infection.	Arbovirus encephalitis;Arbovirus encephalitis (disorder);Arbovirus encephalitis (disorder) [Ambiguous];Arthropod-borne viral encephalitis, vector unknown;Arthropod-borne viral encephalitis, vector unknown (disorder);Encephalitis - viral;Encephalitis in viral disease NOS (disorder);Encephalitis, Arbovirus;Epidemic Encephalitis;Epidemic encephalitis;Epidemic encephalitis (disorder);Unspecified viral encephalitis (disorder);Viral Encephalitis;Viral encephalitis (disorder);Viral encephalitis NOS;Viruses caused encephalitis;Viruses encephalitis;arbovirus encephalitis;epidemic encephalitis;mosquito-borne viral encephalitis;tick-borne viral encephalitis;viral encephalitis
Viral eye infection	MONDO_0020950	Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.	viral eye infection
Viral hemorrhagic fever	MONDO_0018087	Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).	N/A
Viral human hepatitis infection	EFO_0004196	An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.;INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D).	Hepatitis viral;Viruses caused hepatitis;Viruses hepatitis;hepatitis, viral, human;human viral hepatitis;viral Hepatitis;viral hepatitis;viral human hepatitis
Viral infection of central nervous system	MONDO_0024318	N/A	viral infection of central nervous system
Viral respiratory tract infection	MONDO_0024352	A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.	viral respiratory tract infection
Viral sexually transmitted disease	MONDO_0021682	Viral diseases which are potentially transmitted or propagated by sexual conduct.	viral sexually transmitted disease
Virus associated tumor	MONDO_0017341	N/A	N/A
Visceral adipose tissue measurement	EFO_0004765	Is a quantification of a particular location of adipose tissue.	N/A
Visceral leishmaniasis	EFO_0005045	A chronic parasitic infection affecting the viscera and caused by Leishmania donovani. Signs and symptoms include fever, anorexia, fatigue, lymphadenopathy, anemia, and hepatosplenomegaly. If left untreated it may lead to death.;Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease.	infection by visceral leishmaniasis;kala-Azar;visceral leishmaniasis;viscus leishmaniasis
Visceral:subcutaneous adipose tissue ratio	EFO_0004767	Is a quantification of visceral to subcutaneous adipose tissue.	N/A
Visual impairment	HP_0000505	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.	N/A
Vitamin b12- and folate-independent constitutional megaloblastic anemia	Orphanet_98415	N/A	vitamin B12- and folate-independent constitutional megaloblastic anemia
Vitamin b12 measurement	EFO_0004620	is a quantification of Vitamin B12, vitamin B12 or vitamin B-12, is a water-solublevitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins. It is normally involved in themetabolism of every cell of the human body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis.	vitamin B12 levels
Vitamin b6 measurement	EFO_0004621	is a quantification of Vitamin B6 a water soluble vitamin	vitamin B6 levels
Vitamin d deficiency	EFO_0003762	A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)	Avitaminosis D;Avitaminosis D, NOS;DEFIC VITAMIN D;Deficiencies, Vitamin D;Deficiency, Vitamin D;VITAMIN D DEFIC;Vitamin D Deficiencies;Vitamin D deficiency (disorder);Vitamin D deficiency, NOS;Vitamin D insufficiency
Vitamin deficiency	EFO_0005878	A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.	Avitaminosis;Hypovitaminosis;Vitamin Deficiency Disorder;Vitamin deficiency (disorder)
Vitamin d measurement	EFO_0004631	A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH).25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood.	N/A
Vitiligo	EFO_0004208	A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached.;Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.	vitiligo
Vitreoretinopathy	Orphanet_98668	N/A	N/A
Vitreous body disease	EFO_0008624	Any disease affecting the vitreous body of the eye.;Any disease affecting the vitreous body of the eye. [ NCI ]	disease of vitreous body;disease or disorder of vitreous body;disorder of vitreous body;vitreous body disease;vitreous body disease or disorder;vitreous body disorder
Vitreous disease	MONDO_0004860	A disease involving the vitreous humor.	disease of vitreous humor;disease or disorder of vitreous humor;disorder of vitreous humor;vitreous humor disease;vitreous humor disease or disorder
Vogt-koyanagi-harada disease	Orphanet_3437	Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.	Uveomenigitic syndrome
Von willebrand factor measurement	EFO_0004629	Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis.	vWF;von Willebrand factor levels
Vulva cancer	MONDO_0001528	A primary or metastatic malignant neoplasm involving the vulva.	Ca vulva;cancer of mammalian vulva;malignant mammalian vulva neoplasm;malignant neoplasm of mammalian vulva;malignant neoplasm of the vulva;malignant neoplasm of vulva;malignant neoplasm of vulva unspecified;malignant neoplasm of vulva, unspecified;malignant tumor of the vulva;malignant tumor of vulva;malignant vulva neoplasm;malignant vulva tumor;malignant vulvar neoplasm;malignant vulvar tumor;mammalian vulva cancer;neoplasm of vulva;vulval cancer;vulval neoplasm;vulvar cancer;vulvar neoplasm;vulvar tumor
Vulvar carcinoma	EFO_0002921	A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia.;A carcinoma that arises from epithelial cells of the mammalian vulva	Ca vulva;cancer of the vulva;cancer of vulva;carcinoma of mammalian vulva;carcinoma of the vulva;carcinoma of vulva;mammalian vulva carcinoma;vulva cancer;vulva carcinoma;vulvar cancer;vulvar carcinoma
Vulvar disease	MONDO_0002187	A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.	disorder of vulva;vulvar disease;vulvar disorder
Vulvar neoplasm	MONDO_0021049	A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.	mammalian vulva neoplasm;mammalian vulva neoplasm (disease);mammalian vulva tumor;neoplasm of mammalian vulva;neoplasm of the vulva;neoplasm of vulva;tumor of mammalian vulva;tumor of the vulva;tumor of vulva;vulva neoplasm;vulva tumor;vulval neoplasm;vulvar neoplasm;vulvar tumor
Vulvar squamous cell carcinoma	EFO_1000624	An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)	epidermoid carcinoma of the vulva;epidermoid carcinoma of vulva;epidermoid cell carcinoma of the vulva;epidermoid cell carcinoma of vulva;mammalian vulva squamous cell carcinoma;squamous cell carcinoma of the vulva;squamous cell carcinoma of vulva;vulva epidermoid carcinoma;vulva epidermoid cell carcinoma;vulva squamous cell carcinoma;vulvar epidermoid carcinoma;vulvar epidermoid cell carcinoma;vulvar squamous cell cancer;vulvar squamous cell carcinoma
Vulvar squamous neoplasm	MONDO_0002195	A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.	mammalian vulva squamous cell neoplasm;vulvar squamous neoplasm;vulvar squamous tumor
Waist circumference	EFO_0004342	The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation.	N/A
Waist-hip ratio	EFO_0004343	The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered "at risk" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)	N/A
Wellbeing measurement	EFO_0007869	quantification of some aspect of wellbeing such as life satisfaction or emotional wellbeing, usually self-reported and quantified through the use of a structured questionnaire	N/A
West nile encephalitis	EFO_0007545	A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis.;family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.	West Nile Fever;West Nile Fever with encephalitis;West Nile encephalitis;West Nile fever encephalitis;West Nile fever with encephalitis;West Nile virus caused infectious encephalitis;West Nile virus infectious encephalitis;West-Nile encephalitis;West-Nile fever
West nile fever	MONDO_0002282	A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)	West Nile virus caused disease or disorder;West Nile virus disease or disorder;West Nile virus infectious disease
West syndrome	Orphanet_3451	West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.	Infantile spasms;Intellectual disability - hypsarrhythmia;West syndrome;infantile spasms;intellectual disability-hypsarrhythmia syndrome
Wet macular degeneration	EFO_0004683	A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.;A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.	Kuhnt-Junius degeneration;Senile macular degeneration, wet;choroidal neovascularization;exudative senile macular degeneration of retina;neovascular age-related macular degeneration;wet macular degeneration;wet senile macular retinal degeneration
Wheezing	EFO_0009715	A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema. [ NCI ]	N/A
White matter integrity	EFO_0004641	White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function.	N/A
White matter lesion progression measurement	EFO_0007746	quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging	N/A
Williams syndrome	Orphanet_904	Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)	Deletion 7q11.23;Monosomy 7q11.23;Williams-Beuren syndrome
Wolfram syndrome	Orphanet_3463	Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).	DIDMOAD syndrome;Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
X chromosome number anomaly	Orphanet_263714	N/A	X chromosome number anomaly
X chromosome number anomaly with male phenotype	Orphanet_263720	N/A	X chromosome number anomaly with male phenotype
Xenograft	EFO_0003942	Transplantation between animals of different species.	HETEROL TRANSPL;Heterograft;Heterografts;Heterologous Transplantations;TRANSPL HETEROL;Transplantation, Heterologous;Transplantations, Heterologous;XENOTRANSPL;Xenografts;Xenotransplantation;Xenotransplantations;heterologous transplantation
X-linked alport syndrome	Orphanet_88917	X-linked form of Alport syndrome.	Alport syndrome, X-linked;X-linked Alport syndrome;nephropathy and deafness, X-linked
X-linked cerebellar ataxia	Orphanet_247765	X-linked form of cerebellar ataxia.	X-linked cerebellar ataxia;X-linked hereditary ataxia;cerebellar ataxia, X-linked;hereditary ataxia, X-linked
X-linked disease	MONDO_0000425	X-linked form of disease.	X-linked disease or disorder;X-linked hereditary disease;X-linked hereditary disorder;X-linked inherited disease;X-linked inherited disorder;disease or disorder, X-linked;disease, X-linked
X-linked recessive optic atrophy	Orphanet_98678	N/A	N/A
X-linked syndromic intellectual disability	Orphanet_98464	N/A	N/A