Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
mucinous cystadenofibroma	DOID_6468	[A cystadenofibroma that is characterized by the presence of mucin.]
leiomyomatosis	DOID_5138	[A leiomyoma that is multiple and diffuse.]
multiple pterygium syndrome	DOID_0080110	[A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.]
Abnormal thrombosis	HP_0001977	[Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).]
Optic atrophy	HP_0000648	[Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.]
Abnormality of the optic disc	HP_0012795	[A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.]
renal hypoplasia	DOID_0080204	[A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.]
CAKUT	DOID_0080205	[A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.]
CAKUT1	DOID_0080206	[A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32.]
acquired night blindness	DOID_11491	[A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated.]
bilateral renal aplasia	DOID_0080200	[A renal agenesis that is characterized by the absence of both kidneys at birth.]
renal agenesis	DOID_14766	[A renal disease that is characterized by the failure of one or both kidneys to develop.]
obsolete vitamin A deficiency with night blindness	DOID_11490
Peters plus syndrome	DOID_0080201	[A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.]
adenoid cystic carcinoma	DOID_0080202	[An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.]
tonsil cancer	DOID_8858
Staphylococcus	NCBITaxon_1279
CAKUT2	DOID_0080207	[A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.]
non-alcoholic fatty liver disease	DOID_0080208	[A fatty liver disease characterized by the storing of excess fat in liver cells which is not caused by heavy alcohol use.]
fatty liver disease	DOID_9452	[A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis.]