Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
gastrointestinal bleeding	SYMP_0000867	[A digestive system symptom characterized by bleeding from one or more of the areas of the digestive or gastrointestinal (GI) tract that includes the espophagus, stomach, small intestine, large intestine or colon, rectum and anus.]
lymphoproliferative syndrome	DOID_0060704	[A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.]
X-linked lymphoproliferative syndrome 1	DOID_0060705	[A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.]
X-linked lymphoproliferative syndrome 2	DOID_0060706	[A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.]
lymphoproliferative syndrome 1	DOID_0060707	[A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.]
lymphoproliferative syndrome 2	DOID_0060708	[A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.]
familial hypocalciuric hypercalcemia 1	DOID_0060700	[A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.]
familial hypocalciuric hypercalcemia 2	DOID_0060701	[A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.]
familial hypocalciuric hypercalcemia 3	DOID_0060702	[A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.]
Boreoeutheria	NCBITaxon_1437010
Eutheria	NCBITaxon_9347
Muenke Syndrome	DOID_0060703	[A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.]
obsolete conventional alveolar rhabdomyosarcoma	DOID_4381
obsolete solid alveolar rhabdomyosarcoma	DOID_4383
Balkan nephropathy	DOID_3052	[An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.]
interstitial nephritis	DOID_1063
papillary squamous carcinoma	DOID_4385	[A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.]
orbit alveolar rhabdomyosarcoma	DOID_4384
Giardia intestinalis	NCBITaxon_5741
Giardia	NCBITaxon_5740