Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
eosinophilic esophagitis	DOID_13922	[An esophagitis characterized by inflammation involving eosinophils located_in esophagus.]
ventriculomegaly - cystic kidney disease	DOID_0111625	[A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3.]
bacterial esophagitis	DOID_13921
ACTH-independent macronodular adrenal hyperplasia 1	DOID_0111623	[An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32.]
corneal dystrophy-perceptive deafness syndrome	DOID_0111620	[A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13.]
Temtamy syndrome	DOID_0111621	[A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31.]
benign dermal neurilemmoma	DOID_7181
anal canal squamous cell carcinoma	DOID_7177	[An anal canal cancer that derives_from epithelial squamous cells.]
anus basaloid carcinoma	DOID_7174
lacrimal duct obstruction	DOID_13929
anal Buschke-Lowenstein tumor	DOID_7175
high myopia-sensorineural deafness syndrome	DOID_0111628	[A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1.]
dihydropyrimidinase deficiency	DOID_0111629	[A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3.]
pyrimidine metabolic disorder	DOID_0050832	[An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.]
D-glyceric aciduria	DOID_0111626	[An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2.]
mixed eosinophil-basophil adenoma	DOID_7179
necrotizing ulcerative gingivitis	DOID_13924
DOORS syndrome	DOID_0111627	[A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.]
ectodermal dysplasia 13	DOID_0111650	[An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1.]
acute leukemia	DOID_12603	[A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia.]