DOID_0050873 Follicular lymphoma A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). N/A MESH:D008224;OMIM:151430 DOID_1227 Neutropenia N/A N/A ICD10CM:D70;ICD10CM:D70.9;ICD9CM:288.0;ICD9CM:288.00;MESH:D009503;SNOMEDCT_US_2016_03_01:142928004;SNOMEDCT_US_2016_03_01:191336001;SNOMEDCT_US_2016_03_01:303011007;SNOMEDCT_US_2016_03_01:72885007;UMLS_CUI:C0027947 DOID_615 Leukopenia A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. Leucopenia ICD10CM:D72.819;ICD9CM:288.50;MESH:D007970;SNOMEDCT_US_2016_03_01:142917003;SNOMEDCT_US_2016_03_01:191348003;SNOMEDCT_US_2016_03_01:84828003;UMLS_CUI:C0023530 EFO_0000095 Chronic lymphocytic leukemia 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 Cell Leukemia, Chronic;B Lymphocytic Leukemia, Chronic;B-Cell Chronic Lymphocytic Leukemia;B-Cell Leukemia, Chronic;B-Cell Leukemias, Chronic;B-Lymphocytic Leukemia, Chronic;B-Lymphocytic Leukemias, Chronic;B-cell chronic lymphocytic leukaemia/small lymphocytic lymphoma;B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma;B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality);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 DOID:1040;MSH:D015451;NCIt:C27911;NCIt:C3163;SNOMEDCT:51092000;OMIM:109543;OMIM:151400 EFO_0000096 Neoplasm of mature b-cells 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.;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;peripheral B-cell neoplasm DOID:0050873;DOID:706;DOID:707;MSH:D008224;NCIt:C27907;NCIt:C3209;NCIt:C3457;SNOMEDCT:269476000;SNOMEDCT:40411000;SNOMEDCT:46744002;SNOMEDCT:55020008;SNOMEDCT:55150002 EFO_0000178 Gastric carcinoma 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);gastric cancer;gastric carcinoma in situ NCIt:C4911;SNOMEDCT:92756002;OMIM:613659 EFO_0000180 Hiv-1 infection 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 NCIt:C14220;OMIM:609423 EFO_0000181 Head and neck squamous cell carcinoma 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. SCCHN;Squamous Cell Carcinoma of Head and Neck;squamous cell carcinoma of the head and neck DOID:5520;NCIt:C34447;OMIM:275355 EFO_0000182 Hepatocellular carcinoma 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.;Tumors or cancer of the LIVER. Adult Liver Cancer;Adult Liver Cancers;Cancer of Liver;Cancer of the Liver;Cancer, Adult Liver;Cancer, Hepatic;Cancer, Hepatocellular;Cancer, Liver;Cancers, Adult Liver;Cancers, Hepatic;Cancers, Hepatocellular;Cancers, Liver;Carcinoma of Liver Cells;Carcinoma of the Liver Cells;Carcinoma, Hepatocellular;Carcinomas, Hepatocellular;HCC;HEPATIC NEOPL;Hepatic Cancer;Hepatic Cancers;Hepatic Neoplasm;Hepatic Neoplasms;Hepatocellular Cancer;Hepatocellular Cancers;Hepatocellular Carcinomas;Hepatoma;Hepatomas;LIVER NEOPL;Liver Cancer;Liver Cancer, Adult;Liver Cancers;Liver Cancers, Adult;Liver Cell Cancer (Hepatocellular Carcinoma);Liver Cell Carcinoma;Liver Cell Carcinoma, Adult;Liver Neoplasm;Liver Neoplasms;NEOPL HEPATIC;NEOPL LIVER;Neoplasm, Hepatic;Neoplasm, Liver;Neoplasms, Hepatic;Neoplasms, Liver;Primary Carcinoma of Liver Cells;Primary Carcinoma of the Liver Cells DOID:684;MSH:D006528;NCIt:C3099;SNOMEDCT:25370001;OMIM:114550 EFO_0000183 Hodgkins lymphoma 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. 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, 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 (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;Lymphocyte Depletion Hodgkin's Lymphoma;Lymphocyte Rich Classical Hodgkin's Lymphoma;Lymphocyte-Rich Classical 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 DOID:8567;DOID:8651;MSH:D006689;NCIt:C5010;NCIt:C5012;NCIt:C6914;NCIt:C7702;NCIt:C9357;SNOMEDCT:14537002;SNOMEDCT:46923007;OMIM:236000 EFO_0000195 Metabolic syndrome 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) 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 DOID:14221;MSH:D024821;NCIt:C84442;SNOMEDCT:237602007;OMIM:605552;OMIM:615812 EFO_0000199 Oral squamous cell carcinoma 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;oral squamous carcinoma DOID:0050866;NCIt:C4833;SNOMEDCT:307502000 EFO_0000203 Monoclonal gammopathy A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. Benign Monoclonal Gammopathy;MGUS;MGUS - Monoclonal gammopathy of uncertain significance;Monoclonal Gammopathy Of Undetermined Significance (MGUS);Monoclonal Gammopathy of Unknown Significance;Monoclonal gammopathy of uncertain significance;Monoclonal gammopathy of uncertain significance (disorder);Monoclonal gammopathy of undetermined significance;Monoclonal gammopathy of undetermined significance (morphologic abnormality);Paraproteinaemia;Paraproteinemia DOID:7442;MSH:D008998;NCIt:C35548;SNOMEDCT:277577000;SNOMEDCT:35601003;SNOMEDCT:58648008 EFO_0000217 Gastritis 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 (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) DOID:4029;MSH:D005756;NCIt:C26780;SNOMEDCT:4556007 EFO_0000220 Acute lymphoblastic leukemia 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.;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, 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) DOID:9952;MSH:D054198;NCIt:C3167;SNOMEDCT:128807009;SNOMEDCT:128822004;SNOMEDCT:128823009;SNOMEDCT:900000000000452009;SNOMEDCT:91857003;OMIM:613065 EFO_0000222 Acute myeloid leukemia 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;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 myeloblastic leukemia (disorder);acute myeloid leukaemia;acute myeloid leukaemia - category;acute myeloid leukaemia, disease;acute myeloid leukemia in remission;acute myeloid leukemia in remission (disorder);acute myeloid leukemia without mention of remission;acute non-lymphocytic leukaemia DOID:9119;MSH:D015470;NCIt:C3171;SNOMEDCT:17788007;SNOMEDCT:413443009;OMIM:601626 EFO_0000249 Alzheimers disease 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's;Alzheimer's Dementia;Alzheimer's disease (disorder);Alzheimer's disease, NOS;Alzheimers;Alzheimers Dementia;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 DOID:10652;MSH:D000544;NCIt:C2866;NCIt:C34524;NCIt:C38778;SNOMEDCT:12348006;SNOMEDCT:15662003;SNOMEDCT:26929004;OMIM:104300;OMIM:502500;OMIM:605526;OMIM:608907;OMIM:615590;OMIM:615711 EFO_0000253 Amyotrophic lateral sclerosis 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);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'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 DOID:332;MSH:D000690;NCIt:C34373;SNOMEDCT:86044005;OMIM:105400;OMIM:105500;OMIM:616208 EFO_0000270 Asthma 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 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);chronic obstructive asthma;chronic obstructive asthma with acute exacerbation;chronic obstructive asthma with status asthmaticus DOID:2841;MSH:D001249;NCIt:C28397;SNOMEDCT:195967001;OMIM:600807;OMIM:607277;OMIM:608584;OMIM:611064;OMIM:611960 EFO_0000274 Atopic eczema 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 and related conditions (disorder);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;atopic dermatitis and related conditions;thyroid adenoma DOID:3310;MSH:D003876;SNOMEDCT:200775004;SNOMEDCT:24079001;SNOMEDCT:90823000;OMIM:147050;OMIM:603165;OMIM:605803 EFO_0000275 Atrial fibrillation 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. AF - Atrial fibrillation;Atrial Fibrillations;Atrial fibrillation (disorder);Auricular Fibrillation;Auricular Fibrillations;Fibrillation, Atrial;Fibrillation, Auricular;Fibrillations, Atrial;Fibrillations, Auricular DOID:0060224;MSH:D001281;NCIt:C50466;SNOMEDCT:49436004;OMIM:611819;OMIM:613120;OMIM:615770 EFO_0000284 Benign prostatic hyperplasia 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 hypertrophy of prostate NOS;benign prostatic hypertrophy DOID:11132;DOID:2883;MSH:D011470;NCIt:C2897;SNOMEDCT:266569009;OMIM:600082 EFO_0000289 Bipolar disorder 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 disease;bipolar disorder manic phase;mixed bipolar I disorder (disorder);mixed bipolar affective disorder (disorder);mixed bipolar affective disorder, NOS (disorder);mixed bipolar disorder DOID:3312;MSH:D001714;NCIt:C34423;SNOMEDCT:13746004;OMIM:612357;OMIM:612371 EFO_0000292 Bladder carcinoma 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 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. Bladder Cancer;Bladder neoplasms;Cancer of Bladder;Cancer of Urinary Bladder;Cancer of the Bladder;Cancer of the Urinary Bladder;Carcinoma of the Bladder;Carcinoma of the Urinary Bladder;Neoplasms, bladder;Urinary Bladder Cancer;Urinary Bladder Carcinoma;Urinary bladder neoplasms;carcinoma bladder;carcinoma of bladder;carcinoma of bladder (disorder);carcinoma of urinary bladder DOID:4007;MSH:D001749;NCIt:C4912;SNOMEDCT:255108000;OMIM:109800 EFO_0000305 Breast carcinoma 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 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 derives_from breast tissue.;A carcinoma that originates from breast tissue.;Cancer of the human MAMMARY GLAND.;Tumor or cancer of the human MAMMARY GLAND.;Tumors or cancer of the human BREAST. BREAST NEOPL;Breast Cancer;Breast Neoplasm;Breast Neoplasms;Breast Tumor;Breast Tumors;CA - Carcinoma of breast;Cancer of Breast;Cancer of the Breast;Cancer, 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;Human Mammary Neoplasm;Human Mammary Neoplasms;Mammary Carcinoma, Human;Mammary Carcinomas, Human;Mammary Neoplasm, Human;Mammary Neoplasms, Human;Mammary carcinoma;NEOPL BREAST;Neoplasm, Breast;Neoplasm, Human Mammary;Neoplasms, Breast;Neoplasms, Human Mammary;Tumor, Breast;Tumors, Breast;carcinoma OF breast DOID:3459;MSH:D001943;NCIt:C4872;SNOMEDCT:254838004;OMIM:114480;OMIM:615554 EFO_0000311 Cancer 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. Malignant Neoplasm;malignant neoplasia;malignant tumor;malignant tumour DOID:162;NCIt:C9305 EFO_0000319 Cardiovascular disease 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 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);circulatory system disease;disease of subdivision of hemolymphoid system DOID:1287;MSH:D002318;NCIt:C2931;SNOMEDCT:105980002;SNOMEDCT:49601007 EFO_0000326 Central nervous system cancer 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;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 DOID:3620;MSH:D005910;NCIt:C3059;NCIt:C4627;SNOMEDCT:115240006;SNOMEDCT:372062007;SNOMEDCT:393564001;OMIM:616568 EFO_0000341 Chronic obstructive pulmonary disease 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;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 NOS;chronic obstructive airways disease NOS (disorder);chronic obstructive lung disease (disorder);chronic obstructive lung disease [Ambiguous];chronic obstructive pulmonary disease and allied conditions DOID:3083;MSH:D029424;NCIt:C3199;SNOMEDCT:13645005;SNOMEDCT:413846005;SNOMEDCT:84162001;OMIM:606963 EFO_0000342 Chronic pancreatitis 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 (disorder) [Ambiguous] MSH:D050500;NCIt:C84637;SNOMEDCT:235494005;OMIM:167800;OMIM:608189 EFO_0000378 Coronary artery disease 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.;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;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 DOID:3393;MSH:D003324;NCIt:C26732;SNOMEDCT:443502000;SNOMEDCT:53741008;OMIM:608320;OMIM:617347 EFO_0000384 Crohn's disease 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. CROHN DIS;CROHNS DIS;Colitis, Granulomatous;Crohn Disease;Crohn's associated gastritis;Crohn's disease;Crohns Disease;Enteritis, Granulomatous;Enteritis, Regional;Gastritis Associated with Crohn Disease;Gastritis Associated with Crohn's Disease;Ileitis, Regional;Ileitis, Terminal;Ileocolitis DOID:8778;MSH:D003424;NCIt:C27837;NCIt:C2965;SNOMEDCT:34000006;OMIM:266600 EFO_0000400 Diabetes mellitus 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 - Diabetes mellitus;Diabetes;Diabetes NOS;Diabetes mellitus (disorder);Diabetes mellitus, NOS DOID:9351;MSH:D003920;NCIt:C2985;SNOMEDCT:73211009;OMIM:612227 EFO_0000401 Diabetic nephropathy 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. 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 MSH:D003928;NCIt:C84417;SNOMEDCT:127013003;SNOMEDCT:197605007;SNOMEDCT:311366001;SNOMEDCT:38542009;SNOMEDCT:54181000;SNOMEDCT:707221002;OMIM:612624;OMIM:612628;OMIM:612634 EFO_0000402 Diffuse gastric adenocarcinoma 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 NCIt:C9159 EFO_0000403 Diffuse large b-cell lymphoma 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.;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;large B-cell lymphoma DOID:0050745;MSH:D016403;NCIt:C8851 EFO_0000474 Epilepsy 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) MSH:D004827;NCIt:C3020;SNOMEDCT:84757009;OMIM:617290 EFO_0000478 Esophageal adenocarcinoma 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 of esophagus (disorder);esophagus adenocarcinoma DOID:4914;MSH:C562730;NCIt:C4025;SNOMEDCT:276803003;OMIM:109350 EFO_0000503 Gastric adenocarcinoma 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 "curative" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).;curative Adenocarcinoma of Stomach;Adenocarcinoma of the Stomach;Stomach Adenocarcinoma;adenocarcinoma of stomach (disorder) DOID:3717;NCIt:C4004;SNOMEDCT:408647009 EFO_0000519 Glioblastoma multiforme 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).;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.;Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (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) Astrocytoma, Grade IV;Astrocytomas, Grade IV;GBM;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;Malignant Optic Nerve Astrocytoma;Optic Glioma;Optic Nerve Glioma;Spongioblastoma Multiforme;[M]Glioblastoma NOS;[M]Glioblastoma NOS (morphologic abnormality) DOID:3068;MSH:D005909;MSH:D020339;NCIt:C3058;NCIt:C4325;NCIt:C4537;SNOMEDCT:393563007;OMIM:137800 EFO_0000537 Hypertension 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);hyperpiesia;hypertension NOS;hypertensive disease NOS;vascular hypertensive disorder DOID:10763;MSH:D006973;NCIt:C3117;OMIM:145500 EFO_0000538 Hypertrophic cardiomyopathy 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 myocardiopathy;primary hypertrophic cardiomyopathy (disorder) [Ambiguous] DOID:11984;MSH:D002312;NCIt:C34449;SNOMEDCT:233873004;OMIM:115196;OMIM:115197;OMIM:192600;OMIM:600858;OMIM:601493;OMIM:608751;OMIM:612098;OMIM:613251;OMIM:613255;OMIM:613690;OMIM:613765;OMIM:613838;OMIM:613873;OMIM:613874;OMIM:613875;OMIM:613876 EFO_0000540 Immune system disease 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 DOID:2914;MSH:D001327;NCIt:C27351;OMIM:109100 EFO_0000571 Lung adenocarcinoma 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. Adenocarcinoma of Lung;Adenocarcinoma of the Lung;adenocarcinoma of lung (disorder) DOID:3910;MSH:C538231;NCIt:C3512;SNOMEDCT:254626006;OMIM:211980 EFO_0000574 Lymphoma 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.;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. DIFFUSE MIXED LYMPHOMA;DIFFUSE MIXED SMALL LARGE LYMPHOMA;DIFFUSE SMALL CLEAVED LYMPHOMA;DIFFUSE UNDIFFER LYMPHOMA;Diffuse Lymphoma;Diffuse Lymphomas;Diffuse Mixed Cell Lymphoma;Diffuse Mixed Small and Large Cell Lymphoma;Diffuse Mixed-Cell Lymphoma;Diffuse Mixed-Cell Lymphomas;Diffuse Small Cleaved Cell Lymphoma;Diffuse Small Cleaved-Cell Lymphoma;Diffuse Undifferentiated Lymphoma;Diffuse Undifferentiated Lymphomas;Germinoblastic Sarcoma;Germinoblastic Sarcomas;Germinoblastoma;Germinoblastomas;High-Grade Lymphoma;High-Grade Lymphomas;Intermediate-Grade Lymphoma;Intermediate-Grade Lymphomas;LYMPHOMA DIFFUSE MIXED LYMPHOCYTIC HISTIOCYTIC;LYMPHOMA MIXED;LYMPHOMA MIXED DIFFUSE;LYMPHOMA MIXED SMALL LARGE DIFFUSE;LYMPHOMA SMALL CLEAVED DIFFUSE;LYMPHOMA SMALL LARGE CLEAVED DIFFUSE;LYMPHOMA SMALL NON CLEAVED;LYMPHOMA SMALL NONCLEAVED;LYMPHOMA UNDIFFER;LYMPHOMA UNDIFFER DIFFUSE;Low-Grade Lymphoma;Low-Grade Lymphomas;Lymphatic Sarcoma;Lymphatic Sarcomas;Lymphocytic-Histiocytic Lymphoma, Mixed;Lymphocytic-Histiocytic Lymphomas, Mixed;Lymphoma (Hodgkin and Non-Hodgkin);Lymphoma (Hodgkin's and Non-Hodgkin's);Lymphoma (Non-Hodgkin);Lymphoma (clinical);Lymphoma, Atypical Diffuse Small Lymphoid;Lymphoma, Diffuse;Lymphoma, Diffuse Mixed-Cell;Lymphoma, Diffuse Undifferentiated;Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic;Lymphoma, High Grade;Lymphoma, High-Grade;Lymphoma, Intermediate Grade;Lymphoma, Intermediate-Grade;Lymphoma, Low Grade;Lymphoma, Low-Grade;Lymphoma, Malignant;Lymphoma, Mixed;Lymphoma, Mixed Cell;Lymphoma, Mixed Cell, Diffuse;Lymphoma, Mixed Lymphocytic Histiocytic;Lymphoma, Mixed Lymphocytic-Histiocytic;Lymphoma, Mixed Small and Large Cell, Diffuse;Lymphoma, Mixed-Cell;Lymphoma, Mixed-Cell, Diffuse;Lymphoma, NOS;Lymphoma, Pleomorphic;Lymphoma, Small Cleaved Cell, Diffuse;Lymphoma, Small Cleaved-Cell, Diffuse;Lymphoma, Small Non Cleaved Cell;Lymphoma, Small Non-Cleaved-Cell;Lymphoma, Small Noncleaved Cell;Lymphoma, Small Noncleaved-Cell;Lymphoma, Small and Large Cleaved-Cell, Diffuse;Lymphoma, Undifferentiated;Lymphoma, Undifferentiated, Diffuse;Lymphomas;Lymphomas, Diffuse;Lymphomas, Diffuse Mixed-Cell;Lymphomas, Diffuse Undifferentiated;Lymphomas, High-Grade;Lymphomas, Intermediate-Grade;Lymphomas, Low-Grade;Lymphomas, Malignant;Lymphomas, Mixed;Lymphomas, Mixed Lymphocytic-Histiocytic;Lymphomas, Mixed-Cell;Lymphomas, Pleomorphic;Lymphomas, Small Non-Cleaved-Cell;Lymphomas, Small Noncleaved-Cell;Lymphomas, Undifferentiated;Lymphosarcoma;Lymphosarcomas;MIXED LYMPHOMA DIFFUSE;MIXED SMALL LARGE LYMPHOMA DIFFUSE;Malignant Lymphoma;Malignant Lymphomas;Malignant lymphoma (clinical);Malignant lymphoma (disorder);Malignant lymphoma NOS;Malignant lymphoma NOS (disorder);Malignant lymphoma NOS of unspecified site;Malignant lymphoma NOS of unspecified site (disorder);Malignant lymphoma, NOS;Malignant lymphoma, no ICD-O subtype;Malignant lymphoma, no ICD-O subtype (morphologic abnormality);Microglioma [obs];Mixed Cell Lymphoma;Mixed Cell Lymphoma, Diffuse;Mixed Lymphocytic-Histiocytic Lymphoma;Mixed Lymphocytic-Histiocytic Lymphomas;Mixed Lymphoma;Mixed Lymphomas;Mixed Small and Large Cell Lymphoma, Diffuse;Mixed-Cell Lymphoma;Mixed-Cell Lymphoma, Diffuse;Mixed-Cell Lymphomas;Mixed-Cell Lymphomas, Diffuse;Non-Cleaved-Cell Lymphoma, Small;Non-Cleaved-Cell Lymphomas, Small;Noncleaved-Cell Lymphoma, Small;Noncleaved-Cell Lymphomas, Small;Pleomorphic Lymphoma;Pleomorphic Lymphomas;Reticulolymphosarcoma;Reticulolymphosarcoma NOS;Reticulolymphosarcomas;Reticulosarcoma;Reticulosarcomas;Reticulum Cell Sarcoma;Reticulum-Cell Sarcoma;Reticulum-Cell Sarcomas;SMALL CLEAVED LYMPHOMA DIFFUSE;SMALL NON CLEAVED LYMPHOMA;Sarcoma, Germinoblastic;Sarcoma, Lymphatic;Sarcoma, Reticulum Cell;Sarcoma, Reticulum-Cell;Sarcomas, Germinoblastic;Sarcomas, Lymphatic;Sarcomas, Reticulum-Cell;Small Cleaved Cell Lymphoma, Diffuse;Small Cleaved-Cell Lymphoma, Diffuse;Small Non Cleaved Cell Lymphoma;Small Non-Cleaved-Cell Lymphoma;Small Non-Cleaved-Cell Lymphomas;Small Noncleaved Cell Lymphoma;Small Noncleaved-Cell Lymphoma;Small Noncleaved-Cell Lymphomas;UNDIFFER LYMPHOMA;Undifferentiated Lymphoma;Undifferentiated Lymphoma, Diffuse;Undifferentiated Lymphomas;Undifferentiated Lymphomas, Diffuse;chronic wasting disease;lymphoma (Hodgkin and Non-Hodgkin);lymphoma (Hodgkin's and non-Hodgkin's) DOID:0060058;MSH:D008223;NCIt:C3208;SNOMEDCT:118600007;SNOMEDCT:188498009;SNOMEDCT:21964009;SNOMEDCT:373168002;OMIM:605027 EFO_0000589 Metabolic disease 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;metabolism disorder DOID:0014667;MSH:D008659;NCIt:C3235;SNOMEDCT:75934005 EFO_0000612 Myocardial infarction 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;MYOCARDIAL INFARCTION, (MI);Myocardial Infarct;Myocardial Infarctions;Myocardial Infarcts;Myocardial infarction (disorder);Myocardial infarction NOS;Myocardial infarction, NOS;heart attack DOID:5844;MSH:D009203;NCIt:C27996;SNOMEDCT:22298006;OMIM:608446 EFO_0000614 Narcolepsy with cataplexy 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) Gelineau Syndrome;Gelineau's Syndrome;Gelineau's Syndromes;Gelineaus Syndrome;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-cataplexy;narcolepsy-cataplexy syndrome;syndrome, narcolepsy cataplexy DOID:8986;MSH:D009290;NCIt:C84489;SNOMEDCT:60380001;OMIM:161400;OMIM:614250 EFO_0000621 Neuroblastoma 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);neuroblastoma (Schwannian Stroma-Poor);neuroblastoma (morphologic abnormality);neuroblastoma NOS (morphologic abnormality) DOID:769;MSH:D009447;NCIt:C3270;SNOMEDCT:432328008;SNOMEDCT:87364003;OMIM:256700;OMIM:613013;OMIM:613014 EFO_0000625 Nevus 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 MSH:D009506;OMIM:162900 EFO_0000637 Osteosarcoma 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 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;osteoid sarcoma DOID:3347;MSH:D012516;NCIt:C53953;NCIt:C9145;SNOMEDCT:21708004;OMIM:259500 EFO_0000640 Papillary renal cell carcinoma Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma. -- 2003;Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages. Chromophil Carcinoma of kidney;Chromophil Carcinoma of the Kidney;Chromophil Renal Cell Carcinoma;Papillary (Chromophil) Renal Cell Carcinoma DOID:4465;NCIt:C6975;OMIM:605074 EFO_0000641 Papillary thyroid carcinoma 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. PTC - Papillary thyroid 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 Gland;Papillary Carcinoma of the Thyroid;Papillary Carcinoma of the Thyroid Gland;Papillary Thyroid Cancer;Papillary Thyroid Gland Carcinoma;Papillary adenocarcinoma;Papillary adenocarcinoma (morphologic abnormality);Papillary adenocarcinoma, NOS;Papillary carcinoma of thyroid;Papillary thyroid carcinoma (disorder);Thyroid Gland Papillary Carcinoma;Thyroid Papillary Carcinoma DOID:3969;NCIt:C2853;NCIt:C4035;SNOMEDCT:255029007;OMIM:188550 EFO_0000649 Periodontitis 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 DOID:824;MSH:D010518;NCIt:C34918;SNOMEDCT:41565005;OMIM:170650;OMIM:260950 EFO_0000660 Polycystic ovary syndrome 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. 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.;Syndrome, Polycystic Ovary;Syndrome, Stein-Leventhal;polycystic ovary DOID:11612;MSH:D011085;NCIt:C26862;SNOMEDCT:69878008;OMIM:184700 EFO_0000668 Preeclampsia 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. 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;hypertension induced by pregnancy;hypertension of preg.;hypertension of pregnancy NOS;hypertension of pregnancy NOS (disorder) DOID:10591;MSH:D011225;MSH:D014115;NCIt:C85021;SNOMEDCT:15394000;SNOMEDCT:398254007;OMIM:189800;OMIM:609404;OMIM:614595 EFO_0000676 Psoriasis 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. 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 DOID:8893;MSH:D011565;NCIt:C3346;SNOMEDCT:9014002;OMIM:177900;OMIM:602723;OMIM:605606;OMIM:612599;OMIM:614070 EFO_0000677 Mental or behavioural disorder 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;mental disorders;mental or behavioral disorder DOID:150;DOID:2468;MSH:D001523;MSH:D011618;NCIt:C2893;SNOMEDCT:5464005;SNOMEDCT:69322001;SNOMEDCT:74732009 EFO_0000681 Renal cell carcinoma 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 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;renal cell cancer DOID:4450;MSH:D002292;NCIt:C9385;SNOMEDCT:41607009;SNOMEDCT:702391001;OMIM:144700;OMIM:300854 EFO_0000685 Rheumatoid arthritis 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.;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 - Rheumatoid arthritis;RhA - Rheumatoid arthritis;Rheumatic gout;Rheumatoid arthritis (disorder);Rheumatoid arthritis NOS;Rheumatoid arthritis NOS (disorder);Rheumatoid disease;atrophic Arthritis DOID:7148;MSH:D001172;NCIt:C2884;SNOMEDCT:69896004;OMIM:180300;OMIM:604302 EFO_0000692 Schizophrenia 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-1 DOID:5419;MSH:D012559;NCIt:C3362;SNOMEDCT:58214004;OMIM:181500;OMIM:600850;OMIM:603342;OMIM:604906;OMIM:608078;OMIM:613950;OMIM:614332;OMIM:615232;OMIM:617629 EFO_0000702 Small cell lung carcinoma 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) 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 small cell carcinoma;small cell carcinoma of lung (disorder);small-cell lung cancer DOID:0050685;DOID:5409;DOID:5411;MSH:D055752;NCIt:C4917;SNOMEDCT:254632001;SNOMEDCT:254633006;SNOMEDCT:74364000;SNOMEDCT:76817009;OMIM:182280 EFO_0000707 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);skin squamous cell carcinoma;squamous carcinoma;squamous cell carcinoma NOS (morphologic abnormality) DOID:1749;MSH:D002294;NCIt:C2929;SNOMEDCT:28899001;SNOMEDCT:402815007 EFO_0000708 Squamous cell lung carcinoma 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. 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);lung squamous cell carcinoma DOID:3907;NCIt:C3493;SNOMEDCT:254634000 EFO_0000712 Stroke 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;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;ischemic stroke MSH:D020521;NCIt:C3390;SNOMEDCT:230690007;SNOMEDCT:422504002;OMIM:601367 EFO_0000717 Systemic scleroderma 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 (progressive systemic sclerosis);PSS - Progressive systemic sclerosis;Progressive systemic sclerosis;SS - Systemic sclerosis;Scleroderma;Scleroderma (& [systemic sclerosis]);Scleroderma syndrome;Scleroderma, Systemic;Sclerosis, Systemic;Systemic sclerosis;Systemic sclerosis (disorder);Thibierge-Weissenbach syndrome DOID:418;MSH:D012595;NCIt:C72070;SNOMEDCT:444133002;SNOMEDCT:89155008 EFO_0000729 Ulcerative colitis 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;ulcerative colitis (disorder) DOID:8577;MSH:D003093;NCIt:C2952;SNOMEDCT:64766004;OMIM:266600 EFO_0000731 Uterine fibroid 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;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);Leiomyomas;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;leiomyoma of Corpus Uteri;leiomyoma of uterus, unspecified;uterine leiomyoma NOS (disorder) DOID:13223;MSH:D007889;MSH:D047708;NCIt:C3157;NCIt:C3434;NCIt:C7052;SNOMEDCT:128917003;SNOMEDCT:44598004;SNOMEDCT:702978006;SNOMEDCT:95315005 EFO_0000756 Melanoma 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. 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 (disorder);malignant melanoma NOS (morphologic abnormality) DOID:1909;MSH:D008545;NCIt:C3224;SNOMEDCT:2092003;SNOMEDCT:372244006;OMIM:155600;OMIM:155755 EFO_0000765 Aids 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&apos;s lymphoma and Kaposi&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 (disorder);AIDS - Acquired immunodeficiency syndrome;AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME;AIDS, NOS;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 syndrome;acquired immunedeficiency syndrome DOID:635;MSH:D000163;NCIt:C2851;SNOMEDCT:62479008 EFO_0000768 Idiopathic pulmonary fibrosis Chronic and progressive fibrosis of the lung parenchyma of unknown cause. IPF;cryptogenic fibrosing alveolitis DOID:0050156;MSH:D054990;NCIt:C35716;SNOMEDCT:700250006;OMIM:178500;OMIM:614742;OMIM:616371;OMIM:616373 EFO_0000769 Epstein-barr virus infection A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.;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;EPSTEIN BARR VIRUS INFECT;Epstein Barr Virus Infections;Epstein-Barr Virus Infections;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;INFECT EBV;INFECT EPSTEIN BARR VIRUS;Infections, EBV;Infections, Epstein-Barr Virus;Tumor Virus Infections;Virus Infections, Epstein-Barr MSH:D020031;NCIt:C38759 EFO_0000773 Temporal lobe epilepsy 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) 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, temporal lobe DOID:3328;MSH:D004833;SNOMEDCT:193000002;OMIM:616436;OMIM:616461 EFO_0001054 Leprosy 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. Disease, Hansen;Disease, Hansen's;HANSEN DIS;HANSENS DIS;Hansen 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 infection;Other specified leprosy;[X]Leprosy, unspecified;[X]Leprosy, unspecified (disorder) DOID:1024;MSH:D007918;NCIt:C84824;SNOMEDCT:81004002 EFO_0001060 Celiac disease 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. 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 DOID:10608;MSH:D002446;NCIt:C26714;SNOMEDCT:396331005;OMIM:212750;OMIM:609753;OMIM:609755;OMIM:612011 EFO_0001061 Cervical 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. Cancer of Cervix;Cancer of Uterine Cervix;Cancer of the Cervix;Cancer of the Uterine Cervix;Carcinoma of Cervix Uteri;Carcinoma of Uterine Cervix;Carcinoma of cervix;Carcinoma of the Cervix;Carcinoma of the Uterine Cervix;Cervical Cancer;Cervix Cancer;Cervix Carcinoma;Cervix Uteri Carcinoma;Uterine Cervix Cancer;Uterine Cervix Carcinoma;carcinoma cervix uteri;carcinoma of cervix (disorder);carcinoma of the Cervix Uteri;cervical carcinoma (uterus) DOID:2893;DOID:4362;NCIt:C9039;SNOMEDCT:285432005;OMIM:603956 EFO_0001065 Endometriosis 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 DOID:289;MSH:D004715;NCIt:C3014;SNOMEDCT:396224008 EFO_0001071 Lung carcinoma 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 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.;Tumors or cancer of the LUNG. Cancer of the Lung;Cancer, Lung;Cancer, Pulmonary;Cancers, Lung;Cancers, Pulmonary;Carcinoma of the Lung;LUNG NEOPL;Lung Cancer;Lung Cancers;Lung Neoplasm;Lung Neoplasms;NEOPL LUNG;NEOPL PULM;Neoplasm, Lung;Neoplasm, Pulmonary;Neoplasms, Lung;Neoplasms, Pulmonary;PULM NEOPL;Pulmonary Cancer;Pulmonary Cancers;Pulmonary Neoplasm;Pulmonary Neoplasms;cancer of lung;carcinoma OF LUNG DOID:3905;MSH:D008175;NCIt:C4878;SNOMEDCT:448993007;OMIM:211980 EFO_0001072 Memory impairment N/A Memory Impairment Adverse Event NCIt:C55427;NCIt:C78444;SNOMEDCT:386807006 EFO_0001073 Obesity 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 DOID:9970;MSH:D009765;NCIt:C3283;SNOMEDCT:414916001;OMIM:601665 EFO_0001075 Ovarian carcinoma Tumors or cancer of the OVARY. These neoplasms 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;Cancer of the Ovary;Cancer, Ovarian;Cancer, Ovary;Cancers, Ovarian;Cancers, Ovary;NEOPL OVARIAN;Neoplasm, Ovarian;Neoplasm, Ovary;Neoplasms, Ovarian;Neoplasms, Ovary;OVARIAN NEOPL;OVARY NEOPL;Ovarian Cancer;Ovarian Cancers;Ovarian Neoplasm;Ovarian Neoplasms;Ovary Cancer;Ovary Cancers;Ovary Neoplasm;Ovary Neoplasms DOID:4001;MSH:D010051;NCIt:C4908;OMIM:167000 EFO_0001357 Sporadic amyotrophic lateral sclerosis Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history. N/A OMIM:105400;OMIM:608030 EFO_0001359 Type i diabetes mellitus 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 DOID:9744;MSH:D003922;NCIt:C2986;SNOMEDCT:11530004;SNOMEDCT:46635009;OMIM:125852;OMIM:222100;OMIM:601388;OMIM:601942;OMIM:610155;OMIM:611895;OMIM:612520;OMIM:612522 EFO_0001360 Type ii diabetes mellitus 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;Type 2 Diabetes;Type 2 Diabetes Mellitus;Type 2 Diabetes Mellitus Non-Insulin Dependent;Type II Diabetes;diabetes mellitus type 2;non-insulin-dependent diabetes mellitus DOID:9352;MSH:D003924;NCIt:C26747;SNOMEDCT:44054006;OMIM:125853;OMIM:601283;OMIM:616087 EFO_0001365 Age-related macular 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 - 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 DOID:10871;DOID:4448;MSH:D008268;NCIt:C25416;NCIt:C84391;SNOMEDCT:267718000;OMIM:153800;OMIM:603075;OMIM:603075;OMIM:608895;OMIM:610149;OMIM:610698;OMIM:611378;OMIM:611488;OMIM:611953;OMIM:613757;OMIM:613761;OMIM:613778;OMIM:613784;OMIM:615439;OMIM:615489;OMIM:615591;OMIM:616118;OMIM:616170 EFO_0001378 Multiple myeloma 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 DOID:9538;MSH:D009101;NCIt:C3242;SNOMEDCT:109989006;SNOMEDCT:55921005 EFO_0001382 Puberty The process of sexual maturation mediated by the neuroendocrine system in mammals. N/A MSH:D011627;NCIt:C82393 EFO_0001421 Liver disease 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 [Ambiguous];disease of the liver (disorder);disorder of liver (disorder);hepatic disorder;liver disorder antepartum;liver disorder in pregnancy - delivered DOID:409;MSH:D008107;NCIt:C3196;NCIt:C50634;SNOMEDCT:15230009;SNOMEDCT:199117000;SNOMEDCT:235856003 EFO_0001645 Coronary heart disease 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 MSH:D003327;NCIt:C26732;NCIt:C50625;SNOMEDCT:414545008;OMIM:608901;OMIM:610938;OMIM:614466 EFO_0001663 Prostate carcinoma 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 Cancer of Prostate;Cancer of the Prostate;Carcinoma of Prostate;Carcinoma of the Prostate;Prostate Cancer DOID:10286;NCIt:C4863;SNOMEDCT:254900004;OMIM:176807 EFO_0002503 Cardiac hypertrophy an increase in size of the cardiac tissue, not due to increased cell number cardiomegaly;enlarged heart;heart hypertrophy;myocardial hypertrophy MSH:D006332;NCIt:C61453;SNOMEDCT:8186001 EFO_0002508 Parkinson's disease 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 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 (disorder);Parkinson's disease NOS;Parkinson's disease NOS (disorder);Parkinson's syndrome;Parkinsonian disorder;Parkinsonism, Primary;Parkinsons;Parkinsons disease;Primary Parkinsonism DOID:14330;MSH:D010300;NCIt:C26845;SNOMEDCT:49049000;OMIM:168600;OMIM:616361;OMIM:616710 EFO_0002609 Chronic childhood arthritis 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);Juvenile Rheumatoid Arthritis;Juvenile chronic arthritis (disorder);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;juvenile arthritis DOID:676;MSH:D001171;NCIt:C114357;NCIt:C27179;SNOMEDCT:410795001;SNOMEDCT:410796000;UMLS:C0553662 EFO_0002618 Pancreatic carcinoma 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;carcinoma of pancreas;carcinoma of pancreas (disorder);exocrine cancer;pancreatic adenocarcinoma DOID:4905;MSH:C562463;NCIt:C3850;SNOMEDCT:372142002;OMIM:260350 EFO_0002689 Antiphospholipid syndrome 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 DOID:2988;MSH:D016736;NCIt:C61283;SNOMEDCT:26843008 EFO_0002690 Systemic lupus erythematosus 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. Disease, Libman-Sacks;LIBMAN SACKS DIS;Libman Sacks Disease;Libman-Sacks Disease;Lupus Erythematosus Disseminatus;Lupus Erythematosus, Systemic;SLE;lupus DOID:9074;MSH:D008180;NCIt:C3201;SNOMEDCT:55464009;OMIM:152700;OMIM:601744;OMIM:605218;OMIM:609939;OMIM:610927;OMIM:612251;OMIM:612253 EFO_0002890 Renal carcinoma 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 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 Cancer;Kidney Carcinoma;Nephroid Carcinoma;Nephroid Carcinomas;Renal Cancer;Renal Collecting Duct Carcinoma;Tumor, Grawitz DOID:4451;NCIt:C9384;SNOMEDCT:188251003;OMIM:144700 EFO_0002892 Thyroid carcinoma 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;head and neck cancer, Thyroid;thyroid cancer DOID:3963;NCIt:C4815 EFO_0002916 Esophageal carcinoma Tumors or cancer of the ESOPHAGUS. Cancer of Esophagus;Cancer of the Esophagus;Cancer, Esophageal;Cancer, Esophagus;Cancers, Esophageal;Cancers, Esophagus;ESOPHAGEAL NEOPL;ESOPHAGUS NEOPL;Esophageal Cancer;Esophageal Cancers;Esophageal Neoplasm;Esophageal Neoplasms;Esophagus Cancer;Esophagus Cancers;Esophagus Neoplasm;Esophagus Neoplasms;NEOPL ESOPHAGEAL;Neoplasm, Esophageal;Neoplasm, Esophagus;Neoplasms, Esophageal;Neoplasms, Esophagus DOID:1107;MSH:D004938;NCIt:C3513 EFO_0002939 Medulloblastoma 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) 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 DOID:0050902;MSH:D008527;NCIt:C3222;SNOMEDCT:443333004;SNOMEDCT:83217000;OMIM:155255 EFO_0003033 Bacteriemia 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 MSH:D016470;NCIt:C102993;SNOMEDCT:5758002 EFO_0003060 Non-small cell lung carcinoma 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;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) DOID:3908;MSH:D002289;NCIt:C2926;SNOMEDCT:254637007;OMIM:211980 EFO_0003086 Kidney disease A disease affecting the kidneys Kidney Disorder;kidney diseases;nephropathy;renal disease;renal system disease DOID:557;MSH:D007674;NCIt:C3149;NCIt:C34843;SNOMEDCT:90708001 EFO_0003095 Non-alcoholic fatty liver disease 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 MSH:D065626;NCIt:C84444;OMIM:613282 EFO_0003100 Peripheral neuropathy 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. N/A DOID:0060053;NCIt:C119734 EFO_0003108 Essential tremor 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] DOID:4990;MSH:D020329;SNOMEDCT:609558009;OMIM:190300;OMIM:614782;OMIM:616736 EFO_0003144 Heart failure 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 MSH:D006333;NCIt:C50577;SNOMEDCT:84114007 EFO_0003756 Autism spectrum disorder 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.;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 DOID:0060041;MSH:D002659;NCIt:C88412;OMIM:209850 EFO_0003761 Unipolar depression 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 depressive disorder DOID:1470;DOID:1595;DOID:2848;MSH:D003865;NCIt:C35094;SNOMEDCT:300706003;SNOMEDCT:321717001;SNOMEDCT:370143000;OMIM:608516 EFO_0003762 Vitamin d deficiency 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 MSH:D014808;NCIt:C114830;SNOMEDCT:34713006 EFO_0003763 Cerebrovascular disorder 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 DOID:6713;MSH:D002561;NCIt:C2938;SNOMEDCT:62914000 EFO_0003767 Inflammatory bowel disease 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] Bowel Diseases, Inflammatory;IBD;INFLAMM BOWEL DIS;Inflammatory Bowel Diseases DOID:0050589;MSH:D015212;NCIt:C3138;SNOMEDCT:24526004;OMIM:608448;OMIM:611081;OMIM:612244;OMIM:612245;OMIM:612261;OMIM:612278 EFO_0003770 Diabetic retinopathy 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 DOID:8947;MSH:D003930;NCIt:C34538;SNOMEDCT:4855003;OMIM:603933;OMIM:612623;OMIM:612633;OMIM:612635 EFO_0003777 Heart disease 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 DOID:114;MSH:D006331;SNOMEDCT:56265001 EFO_0003778 Psoriatic arthritis 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. Arthritic Psoriasis;Arthritis, Psoriatic;Psoriasis Arthropathica;Psoriasis, Arthritic DOID:9008;MSH:D015535;NCIt:C61277;OMIM:607507 EFO_0003780 Behcet's syndrome 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.;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;Behcet Disease;Behcet syndrome;Behcet's disease;Behcets Syndrome;Behet's syndrome (disorder);Triple-Symptom Complex;triple symptom complex DOID:13241;MSH:D001528;NCIt:C34416;SNOMEDCT:310701003;OMIM:109650 EFO_0003784 Skin pigmentation Coloration of the skin. Pigmentation, Skin;Pigmentations, Skin;Skin Pigmentations MSH:D012880;NCIt:C35026;SNOMEDCT:370172004;SNOMEDCT:38962007 EFO_0003785 Allergy 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 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;hypersensitivity;hypersensitivity reaction type I disease DOID:1205;MSH:D006967;NCIt:C114476;NCIt:C3114;SNOMEDCT:419076005 EFO_0003819 Dental caries 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. 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 DOID:216;MSH:D003731;NCIt:C52593;SNOMEDCT:80967001 EFO_0003821 Migraine disorder 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) 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 DOID:6364;MSH:D008881;NCIt:C113482;NCIt:C89715;SNOMEDCT:193028008;SNOMEDCT:193030005;SNOMEDCT:230467008;SNOMEDCT:37796009;SNOMEDCT:75879005;SNOMEDCT:95653008;OMIM:157300;OMIM:613656 EFO_0003826 Salivary gland neoplasm Tumors or cancer of the SALIVARY GLANDS. Cancer of Salivary Gland;Cancer of the Salivary Gland;Cancer, Salivary Gland;Cancers, Salivary Gland;Gland Neoplasm, Salivary;Gland Neoplasms, Salivary;NEOPL SALIVARY GLAND;Neoplasm, Salivary Gland;Neoplasms, Salivary Gland;SALIVARY GLAND NEOPL;Salivary Gland Cancer;Salivary Gland Cancers;Salivary Gland Neoplasms DOID:8850;MSH:D012468;NCIt:C3361 EFO_0003829 Alcohol dependence 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. ALCOHOL RELATED DIS;ALCOHOLIC INTOX CHRONIC;Abuse, Alcohol;Alcohol Abuse;Alcohol Related Disorders;Alcohol-Related Disorder;Alcohol-Related Disorders;Alcoholic Intoxication, Chronic;Chronic Alcoholic Intoxication;Disorder, Alcohol-Related;Disorders, Alcohol-Related;Intoxication, Chronic Alcoholic;alcoholism DOID:0050741;MSH:D000437;MSH:D019973;MSH:D020751;NCIt:C93040;SNOMEDCT:66590003;OMIM:103780 EFO_0003830 Prostatitis Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment. Acute Bacterial Prostatitides;Acute Bacterial Prostatitis;Asymptomatic Inflammatory Prostatitides;Asymptomatic Inflammatory Prostatitis;Bacterial Prostatitides, Acute;Bacterial Prostatitides, Chronic;Bacterial Prostatitis, Acute;Bacterial Prostatitis, Chronic;Chronic Bacterial Prostatitides;Chronic Bacterial Prostatitis;Chronic Prostatitis with Chronic Pelvic Pain Syndrome;Inflammatory Prostatitis, Asymptomatic;Prostatitides;Prostatitides, Chronic Bacterial DOID:14654;MSH:D011472;NCIt:C26866;SNOMEDCT:9713002 EFO_0003839 Retinopathy Any disease or disorder of the retina. retinal disease DOID:5679;NCIt:C62601;SNOMEDCT:399625000;OMIM:162080 EFO_0003843 Pain 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 MSH:D010146;NCIt:C3303;SNOMEDCT:22253000 EFO_0003870 Brain aneurysm 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 DOID:10941;MSH:D002532;NCIt:C27208;SNOMEDCT:125236003;SNOMEDCT:128609009;SNOMEDCT:277196008 EFO_0003882 Osteoporosis 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 DOID:11476;MSH:D010024;NCIt:C3298;SNOMEDCT:64859006;OMIM:166710 EFO_0003884 Chronic kidney disease 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);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. 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 failure;chronic renal insufficiency DOID:784;MSH:D007676;MSH:D051436;NCIt:C80078;SNOMEDCT:46177005;SNOMEDCT:90688005 EFO_0003885 Multiple sclerosis 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 DOID:2377;MSH:D009103;NCIt:C3243;SNOMEDCT:24700007;OMIM:126200;OMIM:612595;OMIM:614810 EFO_0003888 Attention deficit hyperactivity disorder 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) 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 DOID:1094;MSH:D001289;NCIt:C97160;SNOMEDCT:406506008;OMIM:143465;OMIM:613003 EFO_0003889 Functional laterality Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot. Ambidexterity;Behavioral Laterality;Handedness;Laterality of Motor Control;Laterality, Behavioral;Laterality, Functional;Mirror Writing;Mirror Writings;Motor Control Laterality;Writing, Mirror;Writings, Mirror MSH:D007839;SNOMEDCT:57427004;OMIM:139900 EFO_0003890 Drug dependence Disorders related to substance abuse, the side effects of a medication, or toxin exposure. Abuse, Drug;Abuse, Substance;Abuses, Substance;Addiction, Drug;Addiction, Substance;DRUG USE DIS;Dependence, Drug;Dependence, Substance;Disorder, Drug Use;Disorder, Substance Use;Drug Abuse;Drug Addiction;Drug Habituation;Drug Usage;Drug Use Disorder;Drug Use Disorders;Habituation, Drug;ORGANIC MENTAL DIS SUBSTANCE INDUCED;Organic Mental Disorders, Substance Induced;Organic Mental Disorders, Substance-Induced;SUBSTANCE RELATED DIS;SUBSTANCE USE DIS;Substance Abuse;Substance Abuses;Substance Addiction;Substance Dependence;Substance Use Disorder;Substance Use Disorders;Substance-Related Disorders;Usage, Drug;addiction DOID:9974;MSH:D019966;NCIt:C3894;SNOMEDCT:191816009 EFO_0003892 Pulmonary function measurement 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 MSH:D012129;NCIt:C38081 EFO_0003894 Acne 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. Acne Vulgaris DOID:6543;MSH:D000152;NCIt:C27195;SNOMEDCT:11381005 EFO_0003898 Ankylosing spondylitis 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. Ankylosing Spondylarthritides;Ankylosing Spondylarthritis;Ankylosing Spondyloarthritides;Ankylosing Spondyloarthritis;BECHTEREW DIS;BECHTEREWS DIS;Bechterew Disease;Bechterew's Disease;Bechterews Disease;MARIE STRUEMPELL DIS;Marie Struempell Disease;Marie-Struempell Disease;Rheumatoid Spondylitis;Spondylarthritides, Ankylosing;Spondylarthritis Ankylopoietica;Spondylarthritis, Ankylosing;Spondylitis, Ankylosing;Spondylitis, Rheumatoid;Spondyloarthritides, Ankylosing;Spondyloarthritis, Ankylosing DOID:7147;MSH:D013167;NCIt:C84564;SNOMEDCT:9631008 EFO_0003914 Atherosclerosis A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. Atherogenesis;Atheroscleroses DOID:1936;MSH:D050197;NCIt:C35768;SNOMEDCT:38716007 EFO_0003918 Obstructive sleep apnea 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) 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 DOID:0050848;MSH:D020181;NCIt:C116337;SNOMEDCT:78275009;OMIM:107650 EFO_0003923 Bone density 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 MSH:D015519;NCIt:C96950 EFO_0003924 Hair color Color of hair or fur. Color, Hair;Colors, Hair;Hair Colors MSH:D006200 EFO_0003925 Cognition Intellectual or mental process whereby an organism becomes aware of or obtains knowledge. cognitive function MSH:D003071;NCIt:C16446 EFO_0003926 Neuropsychological test 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 MSH:D009483 EFO_0003939 Energy intake Total number of calories taken in daily whether ingested or by parenteral routes. Caloric Intake MSH:D002149;NCIt:C28135 EFO_0003940 Physical activity 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 MSH:D009043;NCIt:C17708;SNOMEDCT:68130003 EFO_0003949 Eye color Color of the iris. Color, Eye;Colors, Eye;Eye Colors;iris color MSH:D005127 EFO_0003956 Seasonal allergic rhinitis 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 MSH:D006255;NCIt:C92188;SNOMEDCT:367498001 EFO_0003958 Sunburn 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 MSH:D013471;NCIt:C3395 EFO_0003959 Cleft lip 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 DOID:9296;MSH:D002971;NCIt:C87175;SNOMEDCT:80281008 EFO_0004190 Open-angle glaucoma 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, open-angle DOID:1067;MSH:D005902;SNOMEDCT:84494001;OMIM:137760;OMIM:177700;OMIM:603383;OMIM:606657;OMIM:609887;OMIM:613100 EFO_0004191 Androgenetic alopecia N/A alopecia, androgenetic;alopecia, androgenic;alopecia, male pattern;androgenic alopecia;male pattern baldness;male-pattern baldness DOID:0050801 EFO_0004192 Alopecia areata A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed). N/A DOID:986;MSH:D000506;SNOMEDCT:68225006 EFO_0004193 Basal cell carcinoma 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). Skin Basal Cell Carcinoma;carcinoma, basal cell DOID:2513;MSH:D002280;NCIt:C2921;SNOMEDCT:1338007;OMIM:605462;OMIM:614740 EFO_0004194 Iga glomerulonephritis 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. Berger Disease;Berger's Disease;Glomerulonephritis, IGA;IGA Nephropathy;Immunoglobulin A Nephropathy;Nephropathy, IGA DOID:2986;MSH:D005922;NCIt:C34643;SNOMEDCT:236407003;OMIM:161950;OMIM:616818 EFO_0004197 Hepatitis b infection 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, chronic;viral hepatitis B MSH:D019694;NCIt:C3097 EFO_0004207 Pathological myopia 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 DOID:11829 EFO_0004208 Vitiligo 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. N/A DOID:12306;MSH:D014820;NCIt:C26915;SNOMEDCT:56727007;OMIM:193200 EFO_0004209 Hypospadias 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. N/A DOID:10892;MSH:D007021;NCIt:C40341;SNOMEDCT:416010008 EFO_0004214 Abdominal aortic aneurysm 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. Aortic Aneurysm, Abdominal DOID:7693;MSH:D017544;NCIt:C27000;SNOMEDCT:233985008 EFO_0004216 Conduct disorder 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 DOID:12995;MSH:D019955;NCIt:C89329;SNOMEDCT:430909002 EFO_0004220 Chronic 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 infection;chronic hepatitis C with hepatic coma;chronic type C viral hepatitis;chronic viral hepatitis C MSH:D019698;SNOMEDCT:128302006 EFO_0004226 Creutzfeldt jacob disease 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)). CJD;Creutzfeldt-Jakob Disease;Creutzfeldt-Jakob Disease, Familial;Creutzfeldt-Jakob Syndrome;Familial Creutzfeldt-Jakob Disease;Spongiform Encephalopathy, Subacute DOID:11949;MSH:D007562;NCIt:C26802 EFO_0004228 Drug-induced liver injury 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 MSH:D056486;SNOMEDCT:197352008 EFO_0004229 Dupuytren contracture 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 MSH:D004387;SNOMEDCT:274142002;SNOMEDCT:410812005 EFO_0004232 Eosinophilic esophagitis 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. chronic esophagitis, eosinophilic DOID:13922;MSH:D057765;NCIt:C27105;SNOMEDCT:235599003 EFO_0004233 Leukopenia decrease in no. of leukocytes leukocytopenia DOID:615;MSH:D007970;NCIt:C26816;SNOMEDCT:84828003 EFO_0004234 Erectile dysfunction The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction. impotence;male impotence;male sexual impotence DOID:1875;MSH:D007172;NCIt:C3133;SNOMEDCT:397803000 EFO_0004236 Focal segmental glomerulosclerosis 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. glomerulonephritis, focal sclerosing;glomerulosclerosis;glomerulosclerosis, focal;glomerulosclerosis, focal segmental DOID:1312;MSH:D005923;NCIt:C37308;SNOMEDCT:236403004;OMIM:603965;OMIM:607832;OMIM:612551;OMIM:613237;OMIM:614131;OMIM:616002;OMIM:616032;OMIM:616220 EFO_0004237 Graves disease 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). Basedow disease;Basedow's disease;Flajani-Basedow-Graves disease;Graves' disease;exophthalmic goiter;toxic diffuse goiter DOID:10719;DOID:12361;MSH:D006111;NCIt:C3071;SNOMEDCT:267374005;SNOMEDCT:353295004 EFO_0004239 Chronic 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. hepatitis B, chronic MSH:D019694 EFO_0004242 Obsessive-compulsive disorder 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. OCD DOID:10933;MSH:D009771;SNOMEDCT:191736004 EFO_0004243 Carcinoid tumor 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) argentaffinoma;carcinoid;carcinoid tumors, intestinal;ileal carcinoid;ileal carcinoids MSH:D002276;NCIt:C2915;SNOMEDCT:443492008;SNOMEDCT:81622000;OMIM:114900 EFO_0004246 Mucocutaneous lymph node syndrome 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;Kawasaki syndrome DOID:13378;MSH:D009080;NCIt:C34825;OMIM:611775 EFO_0004247 Mood disorder Those disorders that have a disturbance in mood as their predominant feature. affective disorders;major mood disorders;mood disorders DOID:3324;MSH:D019964;NCIt:C92200;SNOMEDCT:46206005 EFO_0004252 Nasopharyngeal neoplasm Tumors or cancer of the NASOPHARYNX. nasopharyngeal cancer;nasopharyngeal carcinoma;nasopharyngeal neoplasms MSH:C538339;MSH:D009303;NCIt:C3257;SNOMEDCT:449248000;OMIM:617075 EFO_0004253 Nephrolithiasis Formation of stones in the KIDNEY. Kidney stones;Renal calculi;Renal stones DOID:585;MSH:D053040;NCIt:C114667;OMIM:605990 EFO_0004254 Membranous glomerulonephritis 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;nephropathy (idiopathic membranous) DOID:10976;MSH:D015433;NCIt:C34645;SNOMEDCT:77182004 EFO_0004259 Osteonecrosis Death of a bone or part of a bone, either atraumatic or posttraumatic. aseptic necrosis of bone;avascular necrosis of bone DOID:10159;MSH:D010020;NCIt:C34841;NCIt:C35476;SNOMEDCT:397758007;SNOMEDCT:398199007 EFO_0004263 Partial epilepsy 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;partial epilepsies DOID:2234;MSH:D004828 EFO_0004265 Peripheral arterial disease 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. peripheral arterial diseases;peripheral artery disease DOID:0050830;MSH:D058729 EFO_0004266 Primary ovarian insufficiency 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. premature ovarian failure;resistant ovary syndrome DOID:5426;MSH:D016649;SNOMEDCT:237788002;SNOMEDCT:80956002;OMIM:300511;OMIM:300604;OMIM:311360;OMIM:608996;OMIM:611548;OMIM:612310;OMIM:612885;OMIM:612964;OMIM:613291;OMIM:615723;OMIM:615724;OMIM:616946;OMIM:616947 EFO_0004267 Biliary liver cirrhosis 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 NCIt:C51225;SNOMEDCT:1761006 EFO_0004268 Sclerosing cholangitis 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. cholangitis, sclerosing;primary sclerosing cholangitis DOID:14268;MSH:D015209;NCIt:C4828;SNOMEDCT:235917005;OMIM:617394 EFO_0004272 Anemia A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. N/A DOID:2355;MSH:D000740;NCIt:C2869;SNOMEDCT:271737000;OMIM:300908 EFO_0004274 Gout 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 his partly genetic. gouty arthritis DOID:13189;MSH:D006073;NCIt:C34650;SNOMEDCT:90560007 EFO_0004276 Stevens-johnson syndrome 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. N/A DOID:0050426;MSH:D013262;NCIt:C79484;SNOMEDCT:73442001;OMIM:608579 EFO_0004278 Sudden cardiac arrest 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) death, sudden, cardiac;sudden cardiac death MSH:D016757;NCIt:C50911;SNOMEDCT:95281009;OMIM:115080;OMIM:617222;OMIM:617223 EFO_0004285 Albuminuria The presence of albumin in the urine, an indicator of KIDNEY DISEASES. urinary albumin excretion MSH:D000419;SNOMEDCT:274769005 EFO_0004286 Venous thromboembolism Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream. N/A MSH:D054556;NCIt:C99537 EFO_0004289 Lymphoid leukemia 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, lymphoid;lymphocytic leukemia DOID:10747;MSH:D007945;NCIt:C7539;SNOMEDCT:188725004;SNOMEDCT:32280000 EFO_0004300 Longevity The length of time of an organism's life. length of life MSH:D008136;SNOMEDCT:111951006 EFO_0004304 Blood sedimentation Measurement of rate of settling of erythrocytes in anticoagulated blood. erythrocyte sedimentation;erythrocyte sedimentation rate MSH:D001799;SNOMEDCT:416560009 EFO_0004305 Erythrocyte count The number of red blood cells per unit volume in a sample of venous blood. RBC;erythrocyte number;red blood cell count MSH:D004906;NCIt:C51946;SNOMEDCT:14089001 EFO_0004308 Leukocyte count 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 MSH:D007958;NCIt:C51948;SNOMEDCT:767002 EFO_0004309 Platelet count The number of PLATELETS per unit volume in a sample of venous BLOOD. blood platelet number MSH:D010976;NCIt:C51951;SNOMEDCT:61928009 EFO_0004318 Smoking behavior Inhaling and exhaling the smoke of tobacco or something similar to tobacco. smoking MSH:D012907;NCIt:C20134 EFO_0004319 Smoking cessation Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke. N/A MSH:D016540;NCIt:C17427 EFO_0004320 Suicidal ideation 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 MSH:D059020;NCIt:C80102 EFO_0004325 Blood pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS. N/A MSH:D001794;NCIt:C54706;SNOMEDCT:75367002 EFO_0004326 Heart rate The number of times the HEART VENTRICLES contract per unit of time, usually per minute. cardiac chronotropy;pulse rate MSH:D006339;NCIt:C49677;SNOMEDCT:364075005 EFO_0004330 Coffee consumption Behaviors associated with the ingesting of coffee caffeine consumption N/A EFO_0004333 Episodic memory Type of declarative memory, consisting of personal memory in contrast to general knowledge. Memory, Episodic;autobiographical memory;prospective memory MSH:D061212;SNOMEDCT:311553000 EFO_0004336 Speech perception 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 MSH:D013067 EFO_0004337 Intelligence The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions. cognitive ability;general cognitive ability MSH:D007360;SNOMEDCT:22851009 EFO_0004338 Body weight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. weight MSH:D001835;NCIt:C81328;SNOMEDCT:27113001 EFO_0004339 Body height The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. height MSH:D001827;NCIt:C25347 EFO_0004342 Waist circumference 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 MSH:D055105;NCIt:C100948;SNOMEDCT:276361009 EFO_0004343 Waist-hip ratio 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 MSH:D049629;NCIt:C17651 EFO_0004344 Birth weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. birthweight MSH:D001724;NCIt:C76325;SNOMEDCT:364589006 EFO_0004345 Corneal topography 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 MSH:D019781;SNOMEDCT:252830007 EFO_0004346 Neuroimaging measurement Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan brain imaging N/A EFO_0004348 Hematocrit 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 MSH:D006400 EFO_0004350 Reasoning Thinking that is coherent and logical, using knowledge to evaluate the truth value of a proposition. N/A NCIt:C86584 EFO_0004354 Circadian rhythm 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 MSH:D002940;SNOMEDCT:30920001 EFO_0004358 Event-related brain oscillation 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 N/A EFO_0004363 Information processing speed time taken to analyse or transform input information in order to produce information as output processing speed SNOMEDCT:304685003 EFO_0004365 Personality trait The characteristics in behavior that a certain person has. personality dimension;personality dimensions NCIt:C17713 EFO_0004459 Ferritin measurement A ferritin measurement a is measurement of ferritin level in serum as an indicator of iron metabolism ferritin level NCIt:C74737;SNOMEDCT:489004 EFO_0004464 Brain measurement N/A N/A N/A EFO_0004465 Fasting blood glucose measurement 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 SNOMEDCT:271062006 EFO_0004466 Fasting blood insulin measurement 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 N/A EFO_0004471 Insulin sensitivity measurement 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 N/A EFO_0004502 Adiponectin measurement 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 NCIt:C74839 EFO_0004505 Telomere length 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 N/A EFO_0004507 D dimer measurement 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 N/A EFO_0004509 Hemoglobin measurement Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia.;hemoglobin levels Hb;haemoglobin measurement;hemoglobin count NCIt:C64848 EFO_0004514 Bone quantitative ultrasound measurement 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 N/A EFO_0004520 Icam-1 measurement 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 N/A EFO_0004526 Mean corpuscular volume A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample. MCV;mean cell volume N/A EFO_0004527 Mean corpuscular hemoglobin 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 N/A EFO_0004529 Lipid measurement A measure of circulating lipid N/A NCIt:C74949 EFO_0004530 Triglyceride measurement A triglyceride measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease. triglyceride levels NCIt:C64812 EFO_0004531 Urate measurement A urate measurement is the quantification of some urate in body fluid urate levels NCIt:C64814 EFO_0004532 Serum gamma-glutamyl transferase measurement 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 SNOMEDCT:313849004 EFO_0004534 Creatine kinase measurement A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure. N/A NCIt:C64489;SNOMEDCT:397798009 EFO_0004537 Neonatal systemic lupus erthematosus 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 NCIt:C99236;SNOMEDCT:95609003 EFO_0004568 Serum non-albumin protein measurement The measurement of the non-albumin portion of blood protein (globulin) in serum N/A N/A EFO_0004570 Bilirubin measurement A bilirubin measurement is a quantification of bilirubin typically measured in serum. bilirubin levels SNOMEDCT:302787001 EFO_0004584 Mean platelet volume A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood N/A MSH:D063847 EFO_0004587 Lymphocyte count A quantification of lymphocytes in blood. lymphocyte counts MSH:D018655;NCIt:C51949;SNOMEDCT:74765001 EFO_0004591 Childhood onset asthma Asthma that starts in childhood. childhood-onset asthma N/A EFO_0004599 Acute graft vs. host disease 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. N/A N/A EFO_0004611 Low density lipoprotein cholesterol measurement The measurement of LDL cholesterol in blood used as a risk indicator for heart disease. LDL measurement NCIt:C105588;SNOMEDCT:113079009 EFO_0004612 High density lipoprotein cholesterol measurement The measurement of HDL cholesterol in blood used as a risk indicator for heart disease. HDL measurement NCIt:C105587;SNOMEDCT:28036006 EFO_0004617 Cystatin c measurement 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 NCIt:C92290 EFO_0004620 Vitamin b12 measurement 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 NCIt:C64817;SNOMEDCT:14598005 EFO_0004621 Vitamin b6 measurement is a quantification of Vitamin B6 a water soluble vitamin vitamin B6 levels NCIt:C74901;SNOMEDCT:11829003 EFO_0004622 Sphingolipid measurement Is a quantification of sphingolipids - molecules playing a role in signal transmission. Sphingolipid assay N/A EFO_0004623 Fibrinogen measurement 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 NCIt:C64606;SNOMEDCT:250346004 EFO_0004625 Progranulin measurement 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 N/A EFO_0004626 Igfbp-3 measurement 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 N/A EFO_0004629 Von willebrand factor measurement 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 NCIt:C98799 EFO_0004633 Protein c measurement 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 N/A EFO_0004634 Coagulation factor measurement A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage. N/A N/A EFO_0004639 Phospholipid measurement Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies. plasma phospholipid levels NCIt:C96623;SNOMEDCT:18284006 EFO_0004645 Response to vaccine 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 N/A EFO_0004683 Wet macular degeneration 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;exudative senile macular degeneration of retina;neovascular age-related macular degeneration;wet senile macular retinal degeneration DOID:10873;MSH:D057135 EFO_0004684 Tumor necrosis factor-alpha measurement 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 N/A EFO_0004694 Factor xi measurement Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation. N/A N/A EFO_0004695 Intraocular pressure measurement Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma. N/A N/A EFO_0004696 Sex hormone-binding globulin measurement 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 N/A EFO_0004697 Estradiol measurement Is a quantification of circulating estradiol a circulating steriod sex hormone. estradiol levels;oestrogen level;oestrogen levels NCIt:C74782;SNOMEDCT:37538009 EFO_0004698 Insomnia Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition N/A NCIt:C28286;SNOMEDCT:193462001;OMIM:614163 EFO_0004699 Gambling behaviour 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 MSH:D005715;SNOMEDCT:105523009 EFO_0004703 Age at menarche The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual N/A NCIt:C19666;SNOMEDCT:398700009 EFO_0004704 Age at menopause The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual N/A NCIt:C106497 EFO_0004705 Hypothyroidism A deficiency of thyroid hormone. N/A DOID:1459;MSH:D007037;NCIt:C26800;SNOMEDCT:40930008 EFO_0004707 Infantile hypertrophic pyloric stenosis 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. N/A N/A EFO_0004710 Pelvic organ prolapse Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. 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 MSH:D056887;SNOMEDCT:237113009 EFO_0004714 Sexual dysfunction Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty. N/A DOID:1876;NCIt:C3347 EFO_0004720 Prion disease 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) N/A DOID:649;SNOMEDCT:20484008;OMIM:245300;OMIM:606688 EFO_0004723 Coronary artery calcification Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction. N/A N/A EFO_0004725 Metabolite measurement 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 N/A EFO_0004730 Hormone measurement N/A N/A NCIt:C74742;SNOMEDCT:122445005 EFO_0004731 Eye measurement Is a quantification of some eye structure or property of an eye structure, such as corneal thickness. N/A N/A EFO_0004732 Lipoprotein measurement Is the quantification of some lipoprotein N/A N/A EFO_0004735 Serum alanine aminotransferase measurement 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 NCIt:C61017;SNOMEDCT:34608000 EFO_0004736 Aspartate aminotransferase measurement Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function. Aspartate transaminase measurement NCIt:C64467;SNOMEDCT:45896001 EFO_0004747 Protein measurement 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 SNOMEDCT:74040009 EFO_0004748 Thyroid stimulating hormone measurement 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 NCIt:C64813;SNOMEDCT:61167004 EFO_0004749 Ccl2 measurement 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 N/A EFO_0004761 Uric acid measurement 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 SNOMEDCT:86228006 EFO_0004762 Vascular endothelial growth factor measurement Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer. N/A NCIt:C92514 EFO_0004765 Visceral adipose tissue measurement Is a quantification of a particular location of adipose tissue. N/A N/A EFO_0004766 Subcutaneous adipose tissue measurement Is a quantification of adipose tissue located beneath the skin. N/A N/A EFO_0004767 Visceral:subcutaneous adipose tissue ratio Is a quantification of visceral to subcutaneous adipose tissue. N/A N/A EFO_0004775 Toxic epidermal necrolysis 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. N/A NCIt:C79777 EFO_0004784 Self reported educational attainment 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 N/A EFO_0004789 Atrial natriuretic factor measurement 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 N/A EFO_0004805 Formal thought disorder Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia N/A N/A EFO_0004810 Interleukin-6 measurement Is a quantification of interleukin-6, a pro-inflammatory and anti-inflammatory cytokine. IL-6 level;IL-6 levels;IL-6 measurement N/A EFO_0004818 Transforming growth factor beta measurement 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 N/A EFO_0004819 Resistin measurement 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 NCIt:C80205 EFO_0004820 Sex ratio The number of males per 100 females, usually counted for live births but sometimes applied at a later life stage N/A MSH:D012744 EFO_0004825 Temperament and character inventory 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 N/A EFO_0004826 Anti-neutrophil antibody associated vasculitis 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. N/A N/A EFO_0004827 Economic and social preference Human economic and social preferences determined by application of a survey or questionnaire. N/A N/A EFO_0004829 Response to irinotecan 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 irinotecan stimulus. Irinotecan prevents DNA from unwinding by inhibition of topoisomerase 1. In chemical terms, it is a semisynthetic analogue of the natural alkaloid camptothecints main use is in colon cancer, in particular, in combination with other chemotherapy agents. This includes the regimen FOLFIRI, which consists of infusional 5-fluorouracil, leucovorin, and irinotecan. N/A N/A EFO_0004832 Optic disc size measurement Is a quantification of the optic disk size N/A N/A EFO_0004833 Neutrophil count 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 NCIt:C51950;SNOMEDCT:30630007 EFO_0004838 Calcium measurement 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 NCIt:C64488;SNOMEDCT:71878006 EFO_0004840 Cortical thickness 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 N/A EFO_0004842 Eosinophil count 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 NCIt:C64550;SNOMEDCT:71960002 EFO_0004845 Magnesium measurement Is a quantification of magnesium in serum. N/A NCIt:C64840;SNOMEDCT:38151008 EFO_0004863 Recombination rate Is the genome wide recombination rate. N/A N/A EFO_0004881 Asparaginase hypersensitivity Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity N/A N/A EFO_0004884 Breast size Is a quantification of some aspect of breast size mammary gland size SNOMEDCT:248808008 EFO_0004887 Maximal oxygen uptake measurement 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 N/A EFO_0004895 Tourette syndrome 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) Tourette's syndrome MSH:D005879;NCIt:C35078;OMIM:137580 EFO_0004908 Testosterone measurement 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 NCIt:C75378;SNOMEDCT:104957004 EFO_0004980 Appendicular lean mass Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture. N/A N/A EFO_0004991 Myasthenia gravis 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) N/A DOID:437;MSH:D009157;NCIt:C60989;SNOMEDCT:91637004 EFO_0004992 Otitis media An acute or chronic inflammatory process affecting the middle ear. middle ear inflammation DOID:10754;MSH:D010033;NCIt:C34885;SNOMEDCT:65363002 EFO_0004993 Serum igm measurement 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 N/A EFO_0004994 Lumbar disc degeneration lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine. degenerative disc disease;degenerative disc disorder;intervertebral disc disease DOID:90;MSH:C535531;OMIM:603932 EFO_0004995 Lean body mass The weight of all organs and tissue in an individual less the weight of the individual's body fat. N/A NCIt:C71258;SNOMEDCT:248362003 EFO_0004996 Type 1 diabetes nephropathy 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. N/A N/A EFO_0004999 N-glycan measurement The quantification of N-glycans in a plasma sample. N-glycan level N/A EFO_0005000 Leptin measurement Quantification of leptin, a hormone made by adipocytes with a role in the regulation of energy balance. N/A NCIt:C74866;SNOMEDCT:117694008 EFO_0005038 Hair morphology 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 N/A EFO_0005039 Hippocampal atrophy Atrophy of the hippocampus as a result of some external stress or disease N/A N/A EFO_0005047 Erythrocyte measurement Is a quantification of some aspect of erythrocyte function, quanity, or composition. red blood cell measurement N/A EFO_0005088 Testicular carcinoma A carcinoma affecting the testis. testicular cancer DOID:2998 EFO_0005090 Basophil count 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 SNOMEDCT:42351005 EFO_0005091 Monocyte count quantification of monocytes in the blood N/A NCIt:C64823;SNOMEDCT:67776007 EFO_0005093 Hip circumference circumferential measurement of the largest part of the hip N/A NCIt:C100947;SNOMEDCT:284472007 EFO_0005106 Body composition measurement measurement of the percentages of fat, bone and muscle in human bodies N/A N/A EFO_0005109 Energy expenditure energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity N/A SNOMEDCT:251833007 EFO_0005110 Fatty acid measurement The determination of the amount of fatty acids present in a sample. N/A NCIt:C80157;SNOMEDCT:313406008 EFO_0005112 Gestational age The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. N/A MSH:D005865 EFO_0005115 Metabolic rate measurement a quantification of metabolic rate N/A N/A EFO_0005116 Urinary metabolite measurement quantification of some metabolite in urine N/A N/A EFO_0005118 Igfbp-1 measurement 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 N/A EFO_0005119 Antioxidant measurement quantification of some antioxidant in a biological sample N/A N/A EFO_0005127 Cancer biomarker measurement 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 N/A EFO_0005128 Albumin:globulin ratio measurement quantification of the ratio of the protein albumin to globulin in the blood serum N/A N/A EFO_0005132 5-hiaa measurement 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 NCIt:C112217;SNOMEDCT:104741005 EFO_0005133 Mhpg measurement 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 N/A EFO_0005134 Amino acid measurement quantification of some amino acid in a biological assay N/A NCIt:C81183 EFO_0005140 Autoimmune disease 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 NCIt:C2889;SNOMEDCT:85828009;OMIM:613551;OMIM:615952;OMIM:617006 EFO_0005187 C-peptide measurement 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 NCIt:C74736 EFO_0005188 Ccl11 measurement 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 N/A EFO_0005190 Urinary nitrogen measurement N/A N/A N/A EFO_0005192 Red blood cell distribution width measure of the variation of red blood cell (RBC) volume RDW N/A EFO_0005196 Vasoactive peptide measurement quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease N/A N/A EFO_0005197 Beta-2 microglobulin measurement 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 NCIt:C81980 EFO_0005199 Renal transplant outcome measurement quantification of the outcome of a kidney transplant N/A N/A EFO_0005200 Antiphospholipid antibody measurement 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 NCIt:C102258;SNOMEDCT:82886000 EFO_0005203 Eating disorder A group of disorders characterized by physiological and psychological disturbances in appetite or food intake. N/A DOID:8670;NCIt:C89332;SNOMEDCT:72366004 EFO_0005204 Bulimia nervosa 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. bulimia DOID:12129;MSH:D052018;NCIt:C34440;SNOMEDCT:78004001;OMIM:610269 EFO_0005207 Congenital heart disease any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels CHD DOID:1682;NCIt:C95834;SNOMEDCT:13213009;OMIM:106700;OMIM:615779 EFO_0005243 Myeloperoxidase measurement quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease N/A NCIt:C80198 EFO_0005266 Serum selenium measurement quantification of selenium in blood N/A SNOMEDCT:166759002 EFO_0005267 Serum copper measurement 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 N/A EFO_0005273 Sleep depth self-reported assessment of how difficult an individual is to wake N/A N/A EFO_0005275 Dihydroxy docosatrienoic acid measurement the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure N/A N/A EFO_0005276 Hydroxy-leucine measurement the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure X-11787 measurement;hydroxy-isoleucine measurement N/A EFO_0005298 Allergic sensitization measurement 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 N/A EFO_0005301 Reading and spelling ability 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 N/A EFO_0005318 Axial length measurement 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 SNOMEDCT:251692002 EFO_0005321 Molar-incisor hypomineralization a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors MIH N/A EFO_0005322 Callous-unemotional behaviour bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness N/A N/A EFO_0005325 Response to angiotensin-converting enzyme inhibitor 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 N/A EFO_0005406 Colorectal adenoma 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. N/A DOID:0050860;NCIt:C5673 EFO_0005407 Psychosis 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. N/A NCIt:C78576 EFO_0005418 Serum dimethylarginine measurement quantification of symmetric or asymmetric dimethylarginine in the blood N/A N/A EFO_0005419 Contrast sensitivity measurement 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 N/A EFO_0005423 Adolescent idiopathic scoliosis A scoliosis with no known cause arising in adolescent. N/A SNOMEDCT:203646004;OMIM:608765 EFO_0005427 Social communication impairment 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 N/A EFO_0005528 Parasitemia measurement quantification of the content of parasites in the blood, used as a measurement of parasite load in the organism and an indication of the degree of an active parasitic infection N/A N/A EFO_0005529 Chagas cardiomyopathy a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi N/A MSH:D002598 EFO_0005536 Nitric oxide exhalation measurement 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 N/A EFO_0005537 Triple-negative breast cancer 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 SNOMEDCT:706970001 EFO_0005543 Glioma 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;Triple-Negative Breast Carcinoma;brain glioma DOID:0060108;NCIt:C4822;NCIt:C71732;OMIM:613028;OMIM:613029 EFO_0005611 Opioid dependence 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 DOID:2559;MSH:D009293 EFO_0005653 Serum metabolite measurement quantification of some metabolite in serum N/A N/A EFO_0005654 Velocity of sound measurement quantification of the speed at which sound travels through bone as an indicator of the physical and structural properties of the bone N/A N/A EFO_0005655 Response to cytosine arabinoside 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 N/A EFO_0005661 Child behaviour checklist assessment 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 N/A EFO_0005663 Urinary uromodulin measurement quantification of the glycoprotein uromodulin in urine urinary Tamm-Horsfall glycoprotein measurement N/A EFO_0005664 Blood metabolite measurement quantification of some metabolite in blood N/A N/A EFO_0005670 Smoking initiation initation of the habit of smoking, the inhaling and exhaling of tobacco smoke. N/A N/A EFO_0005672 Acute coronary syndrome 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. N/A MSH:D054058;NCIt:C53652;SNOMEDCT:394659003 EFO_0005741 Infectious disease A disease whose physical basis is an infectious agent disease by infectious agent;disorder due to infection;transmissible disease DOID:0050117;SNOMEDCT:40733004 EFO_0005761 Lupus nephritis 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). lupus glomerulonephritis MSH:D008181;NCIt:C34789 EFO_0005763 Pulse pressure measurement 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 N/A EFO_0005772 Neurodegenerative disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. Neurodegenerative Diseases;central nervous system degenerative disorder DOID:1289;MSH:D019636;NCIt:C4802;UMLS:C0524851;UMLS:C1285162 EFO_0005782 Age-related hearing impairment 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. age-related hearing loss N/A EFO_0005842 Colorectal cancer A large intestine cancer that is located in the colon and/or located in the rectum. Cancer, Colorectal;Cancers, Colorectal;Colorectal Cancer;Colorectal Cancers;Malignant Colorectal Neoplasm DOID:9256;NCIt:C4978;OMIM:608812;OMIM:612229;OMIM:612591;OMIM:615083 EFO_0005852 Heschl's gyrus morphology measurement 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 N/A EFO_0005854 Allergic rhinitis 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. N/A DOID:4481;NCIt:C79532;SNOMEDCT:61582004;OMIM:607154 EFO_0005895 Ossification of the posterior longitudinal ligament of the spine 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. Ossification of Posterior Longitudinal Ligament MSH:C537143;NCIt:C84975;SNOMEDCT:90448008;OMIM:602475 EFO_0005919 Recombination measurement quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate N/A N/A EFO_0005921 Fev change measurement quantification of the rate of change in FEV of an individual over the course of time, used as an indicator of improvement or decay of pulmonary function FEV1 change measurement N/A EFO_0005922 Esophageal squamous cell carcinoma 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.;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. cancer of esophagus;carcinoma of esophagus;esophageal cancer;esophagus squamous cell carcinoma DOID:3748;DOID:5041;MSH:C562729;NCIt:C4024;SNOMEDCT:372138000;OMIM:133239;UMLS:C0279626 EFO_0005924 Binge eating binge eating with or without purging N/A NCIt:C97162 EFO_0005936 Underweight body mass index status 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 N/A EFO_0005938 Congenital left-sided heart lesions 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;congential LSLs;left ventricular obstructive tract defect OMIM:241550;OMIM:614435 EFO_0005944 Cumulative dose response to bevacizumab physiological response to the cumulative treatment dose of the drug bevacizumab N/A N/A EFO_0005952 Non-hodgkins lymphoma 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;nonhodgkin lymphoma;nonhodgkins lymphoma DOID:0060060;NCIt:C3211 EFO_0006313 Chemotherapy-induced oral mucositis inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment N/A N/A EFO_0006316 Infant expressive language ability mental process necessary for language acquisition in infancy N/A N/A EFO_0006320 Antidepressant-induced side effect any sign or symptom that is the direct result of treatment with antidepressant medication N/A N/A EFO_0006332 Serum iron measurement quantification of the amount of iron in a blood sample used in the diagnosis of familial hemochromatosis N/A SNOMEDCT:250216004 EFO_0006333 Transferrin saturation measurement The determination of the iron bound to transferrin in a sample. N/A NCIt:C98792 EFO_0006334 Total iron binding capacity The determination of the saturation of iron binding sites on serum transferrin proteins. N/A NCIt:C74718;SNOMEDCT:117173006 EFO_0006335 Systolic blood pressure The blood pressure during the contraction of the left ventricle of the heart. SYSBP;systolic pressure NCIt:C25298;SNOMEDCT:271649006 EFO_0006336 Diastolic blood pressure The blood pressure after the contraction of the heart while the chambers of the heart refill with blood. DIABP;diastolic pressure NCIt:C25299;SNOMEDCT:271650006 EFO_0006340 Mean arterial pressure 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 NCIt:C49679 EFO_0006342 Aggressive periodontitis A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.;A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. Circumpubertal Periodontitis;Early-Onset Periodontitis;Juvenile Periodontitis;Periodontitis, Aggressive;Periodontitis, Aggressive, 1;Periodontitis, Circumpubertal;Periodontitis, Juvenile;Periodontitis, Prepubertal;Periodontoses;Periodontosis;Prepubertal Periodontitis DOID:1474;MSH:D010520;SNOMEDCT:449908004 EFO_0006343 Chronic periodontitis A chronic inflammatory process that affects the tissues that surround and support the teeth.;Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people. Chronic pericementitis (disorder);Chronic periodontitis;Chronic periodontitis NOS;chronic pericementitis;chronic periodontitis (disorder);chronic periodontitis NOS (disorder) MSH:D055113;NCIt:C35326;SNOMEDCT:5689008;OMIM:170650;OMIM:170650;OMIM:260950 EFO_0006352 Laryngeal squamous cell carcinoma 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 DOID:2876;NCIt:C4044;SNOMEDCT:405822008 EFO_0006462 Ovarian mucinous adenocarcinoma 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 carcinoma DOID:3606;NCIt:C5243 EFO_0006501 Carotid plaque build 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 N/A EFO_0006503 Dense area measurement quantification of the area of the breast tissue that is dense, expressed in cm2 N/A N/A EFO_0006505 Chronic bronchitis A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. N/A NCIt:C26722;SNOMEDCT:63480004 EFO_0006566 Dysplastic oral keratinocyte Premalignant or precancerous (also referred to as “potentially malignant”) oral lesions involve the skin lining of the mouth (known as the epithelium) and may be at risk for becoming (transforming into) an oral cancer, although it is difficult to predict which lesions will transform and how long it will take. oral cavity dysplasia;oral epithelial dysplasia;premalignant oral lesion;premalignant oral lesions N/A EFO_0006785 Infant body height 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 SNOMEDCT:276351002 EFO_0006788 Anxiety disorder A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.;A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. anxiety disorders;anxiety neuroses;anxiety neurosis;anxiety/mood disorders;chronic stress;mood and anxiety disorder;mood and anxiety disorders;neurotic anxiety states DOID:2030;MSH:D001008;NCIt:C2878;NCIt:C2878;SNOMEDCT:197480006;UMLS:C0003469 EFO_0006792 Lewy body dementia 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 DOID:12217;MSH:D020961;NCIt:C84826;OMIM:127750 EFO_0006796 Very long-chain saturated fatty acid measurement 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 N/A EFO_0006797 Neurofibrilliary tangles measurement 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 N/A EFO_0006798 Neuritic plaque measurement 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 N/A EFO_0006801 Alzheimer's disease neuropathologic change degenerative change that occurs in individuals with Alzheimer's disease, such as amyloid plaques, cerebral amyloid angiopathy, neurofibrillary tangles, neuronal loss or synaptic loss N/A N/A EFO_0006805 Word list delayed recall measurement Word list delayed recall is a verabl declarative memory test using visually or verbally presented word lists, with or without semantic relatedness between words, with articipants being asked to remember as many words as possible after a specified delay interval, The test is used to quanitfy memory performance. N/A N/A EFO_0006810 Oleic acid measurement The determination of the amount of oleic acid present in a sample. N/A N/A EFO_0006812 Autoimmune thyroid disease 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 thyroiditis DOID:7188;MSH:D013967;SNOMEDCT:66944004 EFO_0006821 Trans fatty acid measurement The determination of the amount of trans fatty acids, a kind of unsaturated fatty acids, present in a sample. N/A N/A EFO_0006829 Gfr change measurement 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 N/A EFO_0006876 Seasonality measurement 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 N/A EFO_0006898 Airway wall thickness measurement 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 N/A EFO_0006917 Spontaneous preterm birth 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 N/A EFO_0006918 Female fertility A fertility quality of inhering in a female by virtue of the bearer's disposition to initiate, sustain, or support reproduction. N/A N/A EFO_0006928 Motion sickness 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 NCIt:C34824 EFO_0006939 Cup-to-disc ratio measurement Is a quantification of the ratio between optic cup and optic disc, used in the diagnosis of glaucoma N/A N/A EFO_0006951 Ototoxicity 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 NCIt:C66929 EFO_0006988 Endophenotype Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes. N/A MSH:D058068 EFO_0006996 Response to homoharringtonine 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 treatment with the antineoplastic drug homoharringtonine, also known as omacetaxine mepesuccinate response to HHT;response to omacetaxine mepesuccinate N/A EFO_0007042 Polychlorinated biphenyls measurement 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 N/A EFO_0007051 Vein graft stenosis abnormal narrowing of a vein graft site following a coronary artery bypass vein graft stricture N/A EFO_0007117 Carotid artery intima media thickness 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 N/A EFO_0007118 Sitting height ratio ratio of sitting height to total body height N/A N/A EFO_0007591 Bone mineral accretion measurement quantification of the accruel of bone mineral density over time BMA measurement;bone density increase measurement;bone mineral density change measurement N/A EFO_0007592 Response to bleomycin 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 bleomycin stimulus. Bleomycin acts by induction of DNA strand breaks N/A N/A EFO_0007621 Bone mineral content measurement quantification of the form or content of one or more of the mineral components of bone BMC measurement N/A EFO_0007630 Glycerophospholipid measurement Is a quantification, typically in blood, of glycerophospholipids, a group of glycerol-based phospholipids N/A N/A EFO_0007656 Plasma clusterin measurement quantification of the amount of the clusterin in a sample of blood plasma N/A N/A EFO_0007660 Neuroticism measurement 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 N/A EFO_0007665 Ear protrusion the physical distance from the outer edge of the outer ear to the head outer ear prominence N/A EFO_0007680 Gait measurement quantification of some aspect of a person's gait such as rhythm, variability or step length N/A N/A EFO_0007700 Exploratory eye movement measurement quantification of a participant’s eye tracking while viewing stationary S-shaped figures N/A N/A EFO_0007701 Spine bone mineral density mineral density of the spine bones N/A N/A EFO_0007702 Hip bone mineral density mineral density of the hip bone N/A N/A EFO_0007753 Seasonal gut microbiome measurement quantification of some aspect of the seasonal variation in the micrbiome of the gut N/A N/A EFO_0007764 Delta-5 desaturase measurement 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 N/A EFO_0007778 Urinary albumin to creatinine ratio quantification of the ratio of albumin to creatinine in a urine sample N/A N/A EFO_0007788 Bmi-adjusted waist-hip ratio waist-hip ratio that has been adjusted by subjects’ body mass index N/A N/A EFO_0007789 Bmi-adjusted waist circumference waist circumference measurement that has been adjusted by subjects’ body mass index N/A N/A EFO_0007796 Parental longevity 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 N/A EFO_0007803 Emotional symptom measurement 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 N/A EFO_0007804 Ldl cholesterol change measurement 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 N/A EFO_0007810 Plasmodium falciparum antigen igg1 measurement measurement of the IgG1 antibody isotype produced by plasma cells in response to a Plasmodium falciparum infection N/A N/A EFO_0007823 Facial hair thickness measurement quantification of the thickness or density of facial air, including beards and eyebrows N/A N/A EFO_0007824 Hair shape measurement quantification of some aspect of hair shape, eg whether it is curly or straight N/A N/A EFO_0007828 Daytime rest measurement quantification of some aspect of daytime rest such as duration, frequency or quality N/A N/A EFO_0007836 Coenzyme q10 measurement 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 N/A EFO_0007841 Facial morphology measurement quantification of some aspect of facial morphology such as lip thickness, forehead height or chin protrusion N/A N/A EFO_0007843 Nose morphology measurement quantification of some aspect of nose morphology such as nose wing breadth, nose tip shape or nose profile N/A N/A EFO_0007845 Lip morphology measurement quantification of some aspect of lip morphology such as upper lip or lower lip thickness or lip curvature N/A N/A EFO_0007858 Eye morphology measurement quantification of some aspect of eye morphology, such as the width of the eye socket N/A N/A EFO_0007862 Reproductive behaviour measurement quantification of some aspect of reproductive behaviour such as age at first birth or number of children N/A N/A EFO_0007865 Loneliness measurement 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 N/A EFO_0007869 Wellbeing measurement 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 N/A EFO_0007872 Caffeine metabolite measurement 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 N/A EFO_0007873 Cartilage thickness measurement 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 N/A EFO_0007874 Gut microbiome measurement quantification of some aspect of an individual's micrbiome of the gut N/A N/A EFO_0007904 Susceptibility to childhood ear infection measurement 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 N/A EFO_0007905 Joint hypermobility measurement 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 N/A EFO_0007906 Synophrys measurement quantification of some aspect of unibrows, such as their presence or absence, or their severity monobrow measurement;unibrow measurement N/A EFO_0007912 Conscientiousness measurement quantification of conscientiousness, usually through administration of standardised questionnaire such as the Big Five Inventory (BFI) N/A N/A EFO_0007922 Response to sulfonylurea 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 sulfonyurea stimulus. Sulfonylureas are a class of organic compounds used in medicine and agriculture. They are antidiabetic drugs widely used in the management of diabetes mellitus type. N/A N/A EFO_0007924 Tonsillectomy risk measurement 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 N/A EFO_0007933 Radius bone mineral density mineral density of the radial bone N/A N/A EFO_0007955 Mouth morphology measurement quantification of some aspect of mouth morphology such as mouth width N/A N/A EFO_0007967 Blood osmolality measurement quantification of the concentration of ions in blood, often expressed as a function of sodium and glucose concentrations N/A N/A EFO_0007971 Estrone conjugate measurement quantification of the amount of estrone conjugates, such as sulphate and glucuronide conjugates, in a sample N/A N/A EFO_0007972 Androstenedione measurement quantification of androstenedione in a sample N/A N/A EFO_0007984 Platelet distribution width Measure of variation in platelet size. N/A N/A EFO_0007985 Plateletcrit The proportion of blood volume that is occupied by platelets, expressed as a percentage. N/A N/A EFO_0007986 Reticulocyte count 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 N/A EFO_0007987 Granulocyte count The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter. blood granulocyte count N/A EFO_0007988 Myeloid white cell count The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter. myeloid leukocyte count N/A EFO_0007989 Monocypte percentage of leukocytes 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 N/A EFO_0007990 Neutrophil percentage of leukocytes 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 N/A EFO_0007991 Eosinophil percentage of leukocytes 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 N/A EFO_0007992 Basophil percentage of leukocytes 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 N/A EFO_0007993 Lymphocyte percentage of leukocytes 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 N/A EFO_0007994 Neutrophil percentage of granulocytes 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 N/A EFO_0007995 Basophil percentage of granulocytes 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 N/A EFO_0007996 Eosinophil percentage of granulocytes 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 N/A EFO_0007997 Granulocyte percentage of myeloid white cells 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 N/A EFO_0007998 Cognitive impairment measurement quantification of some aspect of cognitive impairment such as its severity or rate of progression N/A N/A EFO_0007999 Lower body strength measurement quantification of the force that can be exerted by the lower body N/A N/A EFO_0008006 Skin aging measurement 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 N/A EFO_0008022 Angiogenin measurement quantification of the amount of angiogenin in a sample N/A N/A EFO_0008029 Apolipoprotein e measurement quantification of the amount of apolipoprotein E in a sample N/A N/A EFO_0008034 Beta-endorphin measurement quantification of the amount of beta-endorphin in a sample N/A N/A EFO_0008046 C-c motif chemokine 18 measurement quantification of the amount of C-C motif chemokine 18 in a sample N/A N/A EFO_0008047 C-c motif chemokine 19 measurement quantification of the amount of C-C motif chemokine 19 in a sample N/A N/A EFO_0008051 C-c motif chemokine 3 measurement quantification of the amount of C-C motif chemokine 3 in a sample N/A N/A EFO_0008052 C-c motif chemokine 3-like 1 measurement quantification of the amount of C-C motif chemokine 3-like 1 in a sample N/A N/A EFO_0008058 C-x-c motif chemokine 5 measurement quantification of the amount of C-X-C motif chemokine 5 in a sample N/A N/A EFO_0008059 C-x-c motif chemokine 6 measurement quantification of the amount of C-X-C motif chemokine 6 in a sample N/A N/A EFO_0008072 Cathepsin b measurement quantification of the amount of cathepsin B in a sample N/A N/A EFO_0008093 Complement component c7 measurement quantification of the amount of complement component C7 in a sample N/A N/A EFO_0008100 Contactin-2 measurement quantification of the amount of contactin-2 in a sample N/A N/A EFO_0008111 Diet measurement quantification of some aspect of diet, including diet patterns, balance of nutrient consumption and glycemic load N/A N/A EFO_0008114 Dynein light chain roadblock-type 1 measurement quantification of the amount of dynein light chain roadblock-type 1 in a sample N/A N/A EFO_0008122 Eotaxin measurement quantification of the amount of eotaxin in a sample N/A N/A EFO_0008126 Extracellular matrix protein 1 measurement quantification of the amount of extracellular matrix protein 1 in a sample N/A N/A EFO_0008130 Fibroblast growth factor basic measurement quantification of the amount of fibroblast growth factor basic in a sample N/A N/A EFO_0008134 Ficolin-1 measurement quantification of the amount of ficolin-1 in a sample N/A N/A EFO_0008140 Gp41 c34 peptide, hiv measurement quantification of the amount of gp41 C34 peptide, HIV in a sample N/A N/A EFO_0008164 Intercellular adhesion molecule 5 measurement quantification of the amount of intercellular adhesion molecule 5 in a sample N/A N/A EFO_0008165 Interferon gamma measurement quantification of the amount of interferon gamma in a sample N/A N/A EFO_0008175 Interleukin 17 receptor a measurement quantification of the amount of interleukin 17 receptor A in a sample N/A N/A EFO_0008181 Interleukin 23 receptor measurement quantification of the amount of interleukin 23 receptor in a sample N/A N/A EFO_0008187 Interleukin 6 receptor subunit alpha measurement quantification of the amount of interleukin 6 receptor subunit alpha in a sample N/A N/A EFO_0008204 Left ventricular diastolic function measurement 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 N/A EFO_0008213 Low molecular weight phosphotyrosine protein phosphatase measurement quantification of the amount of low molecular weight phosphotyrosine protein phosphatase in a sample N/A N/A EFO_0008216 Lysozyme c measurement quantification of the amount of lysozyme C in a sample N/A N/A EFO_0008227 Matrilysin measurement quantification of the amount of matrilysin in a sample N/A N/A EFO_0008231 Metalloproteinase inhibitor 3 measurement quantification of the amount of metalloproteinase inhibitor 3 in a sample N/A N/A EFO_0008233 Mhc class i polypeptide-related sequence a measurement quantification of the amount of MHC class I polypeptide-related sequence A in a sample N/A N/A EFO_0008234 Mhc class i polypeptide-related sequence b measurement quantification of the amount of MHC class I polypeptide-related sequence B in a sample N/A N/A EFO_0008237 Motor development measurement quantification of some aspect of motor development, including fine and gross motor skills N/A N/A EFO_0008248 Neutrophil collagenase measurement quantification of the amount of neutrophil collagenase in a sample N/A N/A EFO_0008250 Nkg2-d type ii integral membrane protein measurement quantification of the amount of NKG2-D type II integral membrane protein in a sample N/A N/A EFO_0008254 P-selectin measurement quantification of the amount of P-Selectin in a sample N/A N/A EFO_0008260 Plasma kallikrein measurement quantification of the amount of plasma kallikrein in a sample N/A N/A EFO_0008264 Platelet-derived growth factor bb measurement quantification of the amount of platelet-derived growth factor BB in a sample N/A N/A EFO_0008269 Properdin measurement quantification of the amount of properdin in a sample N/A N/A EFO_0008272 Proto-oncogene tyrosine-protein kinase receptor ret measurement quantification of the amount of proto-oncogene tyrosine-protein kinase receptor Ret in a sample N/A N/A EFO_0008282 Serum amyloid a-1 protein measurement quantification of the amount of serum amyloid A-1 protein in a sample N/A N/A EFO_0008299 Thrombospondin-2 measurement quantification of the amount of thrombospondin-2 in a sample N/A N/A EFO_0008310 Tumor necrosis factor receptor superfamily member edar measurement quantification of the amount of tumor necrosis factor receptor superfamily member EDAR in a sample N/A N/A EFO_0008312 Tyrosine-protein kinase receptor tie-1, soluble measurement quantification of the amount of tyrosine-protein kinase receptor Tie-1, soluble in a sample N/A N/A EFO_0008326 A disintegrin and metalloproteinase with thrombospondin motifs 5 measurement quantification of the amount of a disintegrin and metalloproteinase with thrombospondin motifs 5 in a sample ADAMTS5 measurement N/A EFO_0008329 Facial emotion recognition measurement quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions N/A N/A EFO_0008354 Cognitive function measurement quantification of some aspect of cognitive function N/A N/A EFO_0008368 Infant grey matter volume measurement quantification of the volume of grey matter in an infant's brain N/A N/A EFO_0008377 Mosquito bite reaction itch intensity measurement quanitifcation of the itch intensity of a mosquito bite reaction, generally through the use of a standardised questionnaire N/A N/A EFO_0008378 Mosquito bite reaction size measurement quantification of the size of a mosquito bite reaction, generally through the use of a standardised questionnaire N/A N/A EFO_0008380 Perceived unattractiveness to mosquitos measurement quantification of an individual's perceived unattractiveness to mosquitos, generally through the use of a standardised questionnaire N/A N/A EFO_0008401 Susceptibility to shingles measurement 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 N/A EFO_0008402 Susceptibility to cold sores measurement 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 N/A EFO_0008403 Susceptibility to mononucleosis measurement 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 N/A EFO_0008404 Susceptibility to mumps measurement 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 N/A EFO_0008405 Susceptibility to hepatitis b infection measurement Quantification of an individual's susceptibility to hepatitis B N/A N/A EFO_0008406 Susceptibility to plantar warts measurement Quantification of an individual's susceptibility to plantar warts N/A N/A EFO_0008407 Susceptibility to mycobacterium tuberculosis infection measurement Quantification of an individual's susceptibility to infection with Mycobacterium tuberculosis N/A N/A EFO_0008408 Susceptibility to strep throat measurement Quantification of an individual's susceptibility to throat symptoms and fever caused by Group A Streptococcal infection N/A N/A EFO_0008409 Susceptibility to scarlet fever measurement 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 N/A EFO_0008410 Susceptibility to pneumonia measurement Quantification of an individual's susceptibility to pneumonia, an infection of the lung tissue, typically by bacteria or viruses N/A N/A EFO_0008411 Susceptibility to bacterial meningitis measurement Quantification of an individual's susceptibility to bacterial meningitis N/A N/A EFO_0008412 Susceptibility to vaginal yeast infection measurement 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 N/A EFO_0008413 Susceptibility to urinary tract infection measurement 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 N/A EFO_0008414 Susceptibility to measles measurement Quantification of an individual's susceptibility to measles N/A N/A EFO_0008415 Susceptibility to hepatitis a infection measurement Quantification of an individual's susceptibility to hepatitis A N/A N/A EFO_0008416 Susceptibility to rheumatic fever measurement Quantification of an individual's susceptibility to rheumatic fever, arising as a complication of primary infection with Group A Streptococcus N/A N/A EFO_0008417 Susceptibility to common cold measurement Quantification of an individual's susceptibility to the common cold N/A N/A EFO_0008418 Susceptibility to rubella infection measurement Quantification of an individual's susceptibility to shingles N/A N/A EFO_0008434 Initial pursuit acceleration 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 N/A EFO_0008457 Cannabis dependence measurement N/A N/A N/A EFO_0008568 Sleep disorder A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. N/A ICD10:G47;MESH:D012893;ICD9:307.4;NCIT:C3376;DOID:535 EFO_0009167 Response to warfarin Response to the anticoagulant, Warfarin (trade name Coumadin). Coumadin response, response to Coumadin N/A EFO_0009259 Skin carcinoma A carcinoma that arises from epithelial cells of the zone of skin Carcinoma of Skin, carcinoma of the skin, skin carcinoma, Skin Carcinoma, non-melanoma cancer of the skin, non-melanoma skin cancer, zone of skin carcinoma, Skin Cancer, skin cancer, non-melanoma, carcinoma of skin, non-melanoma cancer of skin, nonmelanoma skin cancer, carcinoma of zone of skin, Carcinoma of the Skin NCIT:C4914;DOID:3451;UMLS:C0699893 EFO_0009321 Diabetic macular edema Characterized by build-up of fluid in and beneath the macula, affecting detailed central vision. DME, diabetic macular edema DOID:9191;UMLS_CUI:C0730285 EFO_0009389 Sum of eosinophil and basophil counts Sum of quantification of eosinophil and basophil in the blood. N/A N/A EFO_0009390 Sum of neutrophil and eosinophil counts Sum of quantification of neutrophils and eosinophils in the blood. N/A N/A EFO_0009443 Brcax breast cancer Breast cancer occuring in women with a family history indicative or being a BRCA1 or BRCA2 mutation carrier, but genetic screening for these genes has failed to find clinically significant mutations. BRCA1/2 negative familial breast cancer, BRCA1/BRCA2 negative familial breast cancer, BRCA1/BRCA2 negative high risk breast cancer, non-BRCA familial breast cancer, BRCA1/2 negative high risk breast cancer N/A EFO_0009464 Corneal disease A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. disorder of cornea, corneal disease, disease of cornea, cornea disease, cornea disease or disorder, disease or disorder of cornea, corneal disorder DOID:10124;MESH:D003316;UMLS:C0010034 EFO_1000049 Pulmonary tuberculosis 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 tuberculosis DOID:2957;MSH:D014397;NCIt:C26899;SNOMEDCT:154283005;UMLS:C0041327 EFO_1000058 Nasopharyngeal squamous cell carcinoma A squamous cell carcinoma that arises from the nasopharynx nasopharyngeal carcinoma MSH:C538339;NCIt:C3871;SNOMEDCT:449248000 EFO_1000077 Aids-related primary central nervous system lymphoma A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients. N/A NCIt:C8284 EFO_1000172 Cervical squamous cell carcinoma 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. cervical squamous cell cancer;cervix squamous cell carcinoma DOID:3744;NCIt:C4028;UMLS:C0279671 EFO_1000218 Digestive system carcinoma 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. N/A DOID:0050922;NCIt:C96963 EFO_1000261 Follicular variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the absence of papillary structures, and the presence of follicular structures. The malignant follicular cells display the nuclear characteristics that characterize the papillary adenocarcinomas of the thyroid gland. N/A NCIt:C7381 EFO_1000294 Her2 positive breast carcinoma A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). N/A NCIt:C53556 EFO_1000566 Testicular germ cell tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. N/A NCIt:C8591;OMIM:273300 EFO_1000627 Thyroid disease 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. N/A N/A EFO_1000649 Estrogen-receptor positive breast cancer a subtype of breast cancer that is estrogen-receptor positive N/A DOID_0060075 EFO_1000650 Estrogen-receptor negative breast cancer a subtype of breast cancer that is estrogen-receptor negative N/A DOID_0060078 EFO_1000657 Rectum cancer A colorectal cancer that is located_in the rectum.;Colorectal cancer that is located in the rectum Rectal Neoplasms;carcinoma of rectum;carcinoma of the rectum;malignant Rectal tumor;malignant neoplasm of rectum;malignant rectum tumor;malignant tumor of rectum (disorder);rectal cancer DOID:1993;DOID:1993;MSH:D012004 EFO_1000783 Diabetic neuropathy 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 DOID:11503;DOID:12785;MSH:D003929;SNOMEDCT:230576004;SNOMEDCT:230577008;SNOMEDCT:39058009;SNOMEDCT:39127005;SNOMEDCT:49455004;SNOMEDCT:50620007;SNOMEDCT:81830002 EFO_1000811 Anterior uveitis Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced. Anterior uveitis [Ambiguous];Anterior uveitis, NOS;Uveitis, Anterior DOID:1407;MSH:D014606;NCIt:C35109;SNOMEDCT:410692006 EFO_1000814 Anthracosis A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers. Anthracosis;Coal Miner's Pneumoconiosis;Coal workers' lung;Coal workers' pneumoconiosis;Melanoedema;black lung DOID:10327;MSH:D055008;NCIt:C34390;SNOMEDCT:29422001;ICD10:J60 EFO_1000954 Habitual abortion Three or more consecutive spontaneous abortions. Aborter - recurrent;Abortion, Habitual;Habitual aborter;Habitual aborter - unspecified (disorder);Habitual aborter NOS (disorder);chronic spontaneous abortion;recurrent abortion (disorder);recurrent miscarriage DOID:11946;MSH:D000026;SNOMEDCT:102878001;OMIM:270960;OMIM:614389;OMIM:614390;OMIM:614391;ICD10:N96 EFO_1001050 Multiple system atrophy 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 (disorder);Shy-Drager Syndrome;Shy-Drager syndrome;Shy-McGee-Drager syndrome;orthostatic hypotension syndrome DOID:4752;MSH:D012791;MSH:D019578;NCIt:C84909;SNOMEDCT:230297002;UMLS:C0393571 EFO_1001231 Uveitis inflammation of one or all portions of the uveal tract N/A DOID:13141;MSH:D014605;NCIt:C26909;SNOMEDCT:128473001;OMIM:MTHU007399 EFO_1001252 Gastric cardia carcinoma carcinoma of cardia of stomach N/A DOID:6270;NCIt:C6794 EFO_1001253 Maculopapular eruption A type of rash characterized by a flat, red area on the skin that is covered with small confluent bumps. It is common in several disesases and medical conditions includign scarlet fever, measles, rubella and Ebola, as well as a common manifestation of a skin reaction to a number of drugs including the antibiotic amoxicillin and the antiepileptic drug lamotrigine maculopapular rash N/A EFO_1001480 Metastatic colorectal cancer colorectal cancer that has already spread to distant sites and is considered stage IV N/A N/A EFO_1001486 Primary biliary cirrhosis 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 DOID:12236;NCIt:C27167;SNOMEDCT:31712002;UMLS:C0008312;ICD10:K74.3 EFO_1001488 Influenza a (h1n1) Viral infectious disease caused by the H1N1 strain of the influenza type A virus. Symptoms can range from mild to extremely severe. N/A N/A EFO_1001490 Late-onset myasthenia gravis late-onset myasthenia gravis is a form of MG that occurs in individuals aged 50 years or older N/A N/A EFO_1001504 Small vessel stroke stroke caused by the blockage of blood flow in one of the small blood vessels in the brain N/A N/A EFO_1001506 Primary angle closure glaucoma 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. N/A DOID:1405;NCIt:C34640 EFO_1001507 Asparaginase-induced acute pancreatitis acute pancreatits that is the result of treatment with asparaginase, an enzyme used in some cancer treatments N/A N/A EFO_1001510 Specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. developmental language disorder DOID:0060244 EFO_1001512 Endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus. carcinoma of the Endometrium;endometrioid carcinoma;endometrioid carcinoma of female reproductive system DOID:2871;NCIt:C7558;SNOMEDCT:254878006 EFO_1001514 Endometrial endometrioid carcinoma endometrioid carcinoma located in the lining of the uterus N/A N/A EFO_1001516 Ovarian serous carcinoma serous carcinoma located in the ovary N/A N/A EFO_1001870 Late-onset alzheimers disease 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 N/A EFO_1001927 Cutaneous squamous cell carcinoma squameous cell carcinoma of the skin, representing the second most common cutaneous malignancy, behind only basal cell carcinoma in Caucasians N/A N/A EFO_1001929 Selective iga deficiency disease 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. immunoglobulin A deficiency (disorder);selective IgA Immunodeficiency;selective immunoglobulin A deficiency (disorder) DOID:11701;MESH:D017098 EFO_1001931 Oropharynx cancer A pharynx cancer that is located_in the oropharynx. Oropharyngeal carcinoma;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 tumor of oropharynx (disorder);malignant tumor of posterior wall of oropharynx (disorder);malignant tumour of mesopharynx (disorder);oropharyngeal cancer;primary malignant neoplasm of lateral wall of oropharynx DOID:8557;MSH:D009959 EFO_1001947 Childhood t acute lymphoblastic leukemia An acute lymphoblastic leukemia of T-cell origin occurring in children Childhood Precursor T-Lymphoblastic Leukemia;Childhood T Acute Lymphoblastic Leukemia;Childhood T-ALL;Childhood T-Cell Acute Lymphoblastic Leukemia;T-Cell Childhood ALL;T-Cell Childhood Acute Lymphoblastic Leukemia;T-Cell Childhood Acute Lymphocytic Leukemia;T-Cell Pediatric ALL;T-Cell Pediatric Acute Lymphoblastic Leukemia;T-Cell Pediatric Acute Lymphocytic Leukemia NCIt:C7953 EFO_1001956 Gallbladder carcinoma 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. Cancer of Gallbladder;Carcinoma of Gallbladder;Gallbladder Cancer NCIt:C3844 EFO_1001976 Cardioembolic stroke stroke caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain N/A N/A EFO_1001999 Systemic juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio. Still disease;systemic polyarthritis;systemic-onset JIA;systemic-onset juvenile idiopathic arthritis OMIM:604302;ICD10:M08.2 EFO_1002009 Macular telangiectasia type 2 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 N/A EFO_1002013 Alcoholic pancreatitis 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. N/A DOID:4988;MESH:D019512 EFO_1002015 Hpv-associated cervical carcinoma a carcinoma that arises from the cervix and is caused by human papillomavirus infection HPV-related cervical carcinoma;human papillomavirus-associated cervical carcinoma;human papillomavirus-related cervical carcinoma NCIt:C27675 EFO_1002017 Differentiated thyroid carcinoma 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 N/A NCIt:C7153 EFO_1002021 Ankle injury trauma to the ankle joint N/A N/A function Function A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for. N/A SNOMEDCT:246464006;NCIt:C25518 GO_0006306 Dna methylation The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine N/A MSH:D019175;NCIt:C17961 GO_0006954 N/a N/A N/A N/A GO_0007568 Aging 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 MSH:D000375;NCIt:C16269;SNOMEDCT:248280005;OMIM:502000 GO_0007608 N/a N/A N/A N/A GO_0007610 Behavior 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 MSH:D001519;NCIt:C16326 GO_0014072 Response to opiate 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 N/A GO_0036270 Response to diruetic 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 N/A GO_0036272 Response to gemcitabine 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 N/A GO_0036273 Response to statin 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 N/A GO_0036277 Response to anticonvulsant 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 N/A GO_0042476 Odontogenesis 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 MSH:D009805;NCIt:C82956 GO_0042493 Response to drug 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 MSH:D004351;SNOMEDCT:31438003 GO_0044691 Tooth eruption N/A N/A MSH:D014078;NCIt:C94569 GO_0061476 Response to anticoagulant 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 N/A GO_0070527 N/a N/A N/A N/A GO_0072718 Response to cisplatin 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 N/A GO_0097327 Response to antineoplastic agent 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 N/A GO_0097334 Response to perphenazine 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 N/A GO_0097335 Response to quetiapine 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 N/A GO_0097336 Response to risperidone N/A N/A N/A GO_0097337 Response to ziprasidone 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 N/A GO_0097338 Response to clozapine 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 N/A GO_1901554 Response to acetaminophen 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 N/A GO_1901555 Response to paclitaxel 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 N/A GO_1901557 Response to fenofibrate 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 N/A HP_0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal. N/A MEDDRA:10022016;MSH:D006552;SNOMEDCT_US:396232000;UMLS:C0019294 HP_0000175 Cleft palate 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 hard and soft palate;Cleft of hard and soft palate;Cleft of palate;Cleft palate;Palatoschisis;Uranostaphyloschisis Fyler:4876;MSH:D002972;SNOMEDCT_US:63567004;SNOMEDCT_US:87979003;UMLS:C0008925;UMLS:C2981150 HP_0000483 Astigmatism A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. N/A MSH:D001251;SNOMEDCT_US:82649003;UMLS:C0004106 HP_0000539 Abnormality of refraction An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. N/A UMLS:C4025843 HP_0000540 Hypermetropia An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Farsightedness;Hyperopia;Long-sightedness MSH:D006956;SNOMEDCT_US:38101003;UMLS:C0020490 HP_0000545 Myopia An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Close sighted;Near sighted;Near sightedness;Nearsightedness MSH:D009216;SNOMEDCT_US:57190000;UMLS:C0027092 HP_0000718 Aggressive behavior Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. Aggression;Aggressive behavior;Aggressive behaviour;Aggressiveness MSH:D000374;SNOMEDCT_US:248004009;SNOMEDCT_US:61372001;UMLS:C0001807;UMLS:C0424323;UMLS:C1457883 HP_0001634 Mitral valve prolapse 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 Fyler:1533;MSH:D008945;SNOMEDCT_US:409712001;SNOMEDCT_US:8074002;UMLS:C0026267 HP_0001658 Myocardial infarction Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Heart attack;MI MSH:D009203;SNOMEDCT_US:22298006;UMLS:C0027051 HP_0002014 Diarrhea Abnormally increased frequency of loose or watery bowel movements. Diarrhea;Diarrhoea;Watery stool MSH:D003967;SNOMEDCT_US:267060006;SNOMEDCT_US:62315008;UMLS:C0011991 HP_0002140 Ischemic stroke N/A N/A SNOMEDCT_US:422504002;UMLS:C0948008 HP_0002149 Hyperuricemia An abnormally high level of uric acid in the blood. High blood uric acid level;Hyperuricaemia MSH:D033461;SNOMEDCT_US:35885006;UMLS:C0740394 HP_0011141 Age-related cataract A type of cataract (opacification of the lens) that forms during the course of aging. N/A SNOMEDCT_US:39450006;UMLS:C0036646 HP_0011142 Age-related nuclear cataract A type of age-related cataract that primarily affects the nucleus of the lens. N/A MSH:C563333;UMLS:C1832423 HP_0012042 Aspirin-induced asthma 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 MSH:D055963;SNOMEDCT_US:407674008;UMLS:C1319853 HP_0012219 Erythema nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. N/A MSH:D004893;SNOMEDCT_US:32861005;UMLS:C0014743 HP_0012235 Drug-induced agranulocytosis A type of agranulocytosis related to ingestion of a specific medication. N/A SNOMEDCT_US:47318007;UMLS:C0272178 HP_0012243 Abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. Abnormal genital system morphology UMLS:C4021096 HP_0012444 Brain atrophy Partial or complete wasting (loss) of brain tissue that was once present. Brain degeneration;Brain wasting SNOMEDCT_US:278849000;SNOMEDCT_US:418143002;SNOMEDCT_US:52522001;UMLS:C0154671;UMLS:C0235946 HP_0012594 Microalbuminuria The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day). High urine albumin levels SNOMEDCT_US:312975006;UMLS:C0730345;UMLS:C1654921 HP_0012735 Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Cough;Coughing MSH:D003371;SNOMEDCT_US:263731006;SNOMEDCT_US:272039006;SNOMEDCT_US:49727002;UMLS:C0010200 HP_0025095 Sneeze A sudden violent, spasmodic, audible expiration of breath through the nose and mouth. N/A N/A HP_0100543 Cognitive impairment Abnormality in the process of thought including the ability to process information. Abnormality of cognition;Cognitive abnormality;Cognitive defects;Cognitive deficits;Cognitive impairment;Intellectual impairment;Mental impairment MSH:D060825;SNOMEDCT_US:386806002;UMLS:C0338656;UMLS:C0683322 HP_0100806 Sepsis Systemic inflammatory response to infection. N/A MSH:D018805;UMLS:C0036690 MONDO_0000358 Orofacial cleft N/A N/A UMLS:CN221583;DOID:0050567 MONDO_0000992 Heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system. heart rhythm disease DOID:10273 MONDO_0019004 Kidney wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. adult renal Wilms' tumor, renal embryonic tumor, nephroblastoma, malignant, renal Wilms tumor, Wilms tumor of the kidney, renal Wilms' tumor, kidney Wilms tumor, embryonal nephroma, Nonanaplastic renal Wilm's tumor, Wilms' tumor, nephroblastoma, Wilms' tumor of the kidney, adult nephroblastoma Orphanet:654;DOID:2154;UMLS:C0027708 MONDO_0021661 Coronary atherosclerosis Atherosclerosis of the coronary vasculature. arteriosclerosis disorder of coronary artery, coronary atherosclerosis, coronary artery arteriosclerosis disorder, coronary artery arteriosclerosis (disease) NCIT:C35505;ICD9:414.00 MP_0001728 Failure of embryo implantation Inability of the blastocyst and/or the uterine environment to successfully synchronize allowing attachment of the blastocyst to the epithelial lining of the uterus, its penetration through the epithelium and any subsequent physiological interactions necessary to sustain embryonic development. failure of implantation NCIT_C16450 Colonoscopy Endoscopic examination of the luminal surface of the colon. Colonoscopy, colonoscopy N/A Orphanet_136 Cadasil CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;Hereditary multi-infarct dementia ICD-10:F01.1;ICD-10:F01.1;MeSH:D046589;MeSH:D046589;MedDRA:10065551;MedDRA:10065551;OMIM:125310;OMIM:125310;UMLS:C0751587;UMLS:C0751587 Orphanet_140471 Hereditary sensory and autonomic neuropathy N/A N/A ICD-10:G60.8;ICD-10:G60.8;MeSH:D009477;MeSH:D009477;UMLS:C0027889;UMLS:C0027889 Orphanet_141136 Hemifacial microsomia N/A First branchial arch syndrome;Laterofacial microsomia;Otomandibular dysostosis;Otomandibular syndrome ICD-10:Q75.8;ICD-10:Q75.8;OMIM:164210;OMIM:164210 Orphanet_182098 Pneumoconiosis N/A N/A MeSH:D011009;MedDRA:10035653;UMLS:C0032273 Orphanet_213517 Familial ovarian cancer N/A Familial ovarian malignant tumor ICD-10:C56;ICD-10:C56 Orphanet_227535 Hereditary breast cancer N/A Familial breast cancer;Familial breast carcinoma;Hereditary breast carcinoma ICD-10:C50.0;ICD-10:C50.0;ICD-10:C50.1;ICD-10:C50.1;ICD-10:C50.2;ICD-10:C50.2;ICD-10:C50.3;ICD-10:C50.3;ICD-10:C50.4;ICD-10:C50.4;ICD-10:C50.5;ICD-10:C50.5;ICD-10:C50.6;ICD-10:C50.6;ICD-10:C50.8;ICD-10:C50.8;OMIM:114480;OMIM:114480;OMIM:600048;OMIM:600048;OMIM:604370;OMIM:604370;OMIM:605365;OMIM:605365;OMIM:612555;OMIM:612555;OMIM:613399;OMIM:613399;UMLS:C0346153;UMLS:C0346153 Orphanet_232 Sickle cell anemia 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 ICD-10:D57.0;ICD-10:D57.0;ICD-10:D57.1;ICD-10:D57.1;ICD-10:D57.2;ICD-10:D57.2;MeSH:D000755;MeSH:D000755;MedDRA:10040641;MedDRA:10040641;OMIM:603903;OMIM:603903;UMLS:C0002895;UMLS:C0002895 Orphanet_2445 Conotruncal heart malformations 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). N/A OMIM:217095;UMLS:C1857586 Orphanet_2573 Moyamoya disease 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. Idiopathic Moyamoya disease ICD-10:I67.5;MeSH:C536991;MeSH:D009072;MedDRA:10028047;OMIM:252350;OMIM:607151;OMIM:608796;OMIM:614042;UMLS:C0026654;UMLS:C2931384 Orphanet_278 Corticobasal degeneration N/A N/A N/A Orphanet_282 Frontotemporal dementia 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 ICD-10:G31.0;ICD-10:G31.0;MeSH:D057180;MeSH:D057180;MedDRA:10068968;MedDRA:10068968;OMIM:172700;OMIM:172700;OMIM:600274;OMIM:600274;OMIM:600795;OMIM:600795;OMIM:607485;OMIM:607485;UMLS:C0338451;UMLS:C0338451 Orphanet_293936 Edict syndrome EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. Autosomal dominant keratoconus with early-onset anterior polar cataracts;Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome;Familial keratoconus with cataract;KTCNCT OMIM:614303;OMIM:614303 Orphanet_313838 Coats plus syndrome Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. CRMCC;Cerebroretinal microangiopathy with calcifications and cysts ICD-10:H35.0;ICD-10:H35.0;OMIM:612199;OMIM:612199;OMIM:617341;OMIM:617341;UMLS:C2677299;UMLS:C2677299 Orphanet_334 Familial atrial fibrillation Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported. N/A ICD-10:I48.9;ICD-10:I48.9;OMIM:607554;OMIM:607554;OMIM:608583;OMIM:608583;OMIM:608988;OMIM:608988;OMIM:611493;OMIM:611493;OMIM:611494;OMIM:611494;OMIM:611819;OMIM:611819;OMIM:612201;OMIM:612201;OMIM:612240;OMIM:612240;OMIM:613055;OMIM:613055;OMIM:613120;OMIM:613120;OMIM:613980;OMIM:613980;OMIM:614022;OMIM:614022;OMIM:614049;OMIM:614049;OMIM:614050;OMIM:614050;OMIM:615377;OMIM:615377;OMIM:615378;OMIM:615378;OMIM:615770;OMIM:615770;OMIM:617280;OMIM:617280 Orphanet_3389 Tuberculosis 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 MeSH:D014376;MedDRA:10044755;OMIM:607948;UMLS:C0041296 Orphanet_3437 Vogt-koyanagi-harada disease 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 ICD-10:H20.8;ICD-10:H30.8;UMLS:C0042170 Orphanet_388 Hirschsprung disease 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 ICD-10:Q43.1;ICD-10:Q43.1;MeSH:D006627;MeSH:D006627;MedDRA:10010539;MedDRA:10010539;OMIM:142623;OMIM:142623;OMIM:600155;OMIM:600155;OMIM:600156;OMIM:600156;OMIM:606874;OMIM:606874;OMIM:606875;OMIM:606875;OMIM:608462;OMIM:608462;OMIM:611644;OMIM:611644;OMIM:613711;OMIM:613711;OMIM:613712;OMIM:613712;UMLS:C0019569;UMLS:C0019569;UMLS:C3661523;UMLS:C3661523 Orphanet_398934 Malignant epithelial tumor of ovary N/A Epithelial cancer of ovary;Ovarian epithelial cancer;Ovarian malignant epithelial tumor UMLS:C0677886 Orphanet_399980 Rare genetic male infertility N/A N/A N/A Orphanet_399 Huntington disease 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 ICD-10:G10;ICD-10:G10;MeSH:D006816;MeSH:D006816;MedDRA:10070668;MedDRA:10070668;OMIM:143100;OMIM:143100;UMLS:C0020179;UMLS:C0020179 Orphanet_404584 Rare genetic bone development disorder N/A Rare genetic skeletal development disorder N/A Orphanet_524 Li-fraumeni syndrome 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 ICD-10:D48.9;ICD-10:D48.9;MeSH:D016864;MeSH:D016864;MedDRA:10066795;MedDRA:10066795;OMIM:151623;OMIM:151623;OMIM:609265;OMIM:609265;OMIM:609266;OMIM:609266;UMLS:C0085390;UMLS:C0085390 Orphanet_586 Cystic fibrosis 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 ICD-10:E84.0;ICD-10:E84.0;ICD-10:E84.1;ICD-10:E84.1;ICD-10:E84.8;ICD-10:E84.8;ICD-10:E84.9;ICD-10:E84.9;MeSH:D003550;MeSH:D003550;MedDRA:10011762;MedDRA:10011762;OMIM:219700;OMIM:219700;UMLS:C0010674;UMLS:C0010674 Orphanet_654 Nephroblastoma 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 ICD-10:C64;ICD-10:C64;MeSH:D009396;MeSH:D009396;MedDRA:10029145;MedDRA:10029145;OMIM:194070;OMIM:194070;OMIM:194071;OMIM:194071;OMIM:194090;OMIM:194090;OMIM:601363;OMIM:601363;OMIM:601583;OMIM:601583;OMIM:616806;OMIM:616806;UMLS:C0027708;UMLS:C0027708 Orphanet_70589 Bronchopulmonary dysplasia 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. BPD ICD-10:P27.1;MeSH:D001997;MedDRA:10006475;UMLS:C0006287 Orphanet_739 Prader-willi syndrome 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-Labhart-Willi syndrome;Willi-Prader syndrome ICD-10:Q87.1;ICD-10:Q87.1;MeSH:D011218;MeSH:D011218;MedDRA:10036476;MedDRA:10036476;OMIM:176270;OMIM:176270;OMIM:615547;OMIM:615547;UMLS:C0032897;UMLS:C0032897 Orphanet_85443 Al amyloidosis 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 ICD-10:E85.9;MeSH:C531616;MedDRA:10036673;OMIM:254500;UMLS:C0268381 Orphanet_87884 Non-syndromic genetic deafness Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. Isolated genetic deafness ICD-10:H90.5;ICD-10:H90.5 Orphanet_92050 Congenital tufting enteropathy Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. IED;Intestinal epithelial dysplasia ICD-10:P78.3;ICD-10:P78.3;OMIM:613217;OMIM:613217 Orphanet_93957 Limb dystonia N/A N/A N/A Orphanet_99701 Mesial temporal lobe epilepsy with hippocampal sclerosis N/A MTLE-HS N/A