Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
non-alcoholic steatohepatitis	DOID_0080547	[A nonalcoholic fatty liver disease that is characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without any fibrosis.]
galactosialidosis	DOID_0080540	[A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.]
hyperprolinemia	DOID_0080541	[An amno acid metabolic disorder that is characterized by the excess of proline in the blood.]
hyperprolinemia type 1	DOID_0080542	[A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.]
hyperprolinemia type 2	DOID_0080543	[A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.]
LEOPARD syndrome 1	DOID_0080548	[A LEOPARD syndrome that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.]
LEOPARD syndrome	DOID_14291	[A syndrome that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.]
LEOPARD syndrome 2	DOID_0080549	[A LEOPARD syndrome that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.]
parasitic infectious disease	DOID_1398	[A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.]
polyembryoma of the ovary	DOID_6774	[An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies.]
clear cell hidradenoma	DOID_5443
cervical adenosarcoma	DOID_4111	[A cervical carcinosarcoma that is located_in the cervix.]
eccrine acrospiroma	DOID_5442
villoglandular endometrial endometrioid adenocarcinoma	DOID_6777	[An endometrial adenocarcinoma that is characterized by papillary differentiation.]
syringocystadenoma papilliferum	DOID_5445
uterine corpus adenosarcoma	DOID_4113	[An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.]
spiradenoma	DOID_5444
obsolete renal pelvis and ureter localized transitional cell cancer	DOID_6778
breast myoepithelial carcinoma	DOID_6776	[A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation.]
ovarian mesodermal adenosarcoma	DOID_4115	[An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.]