Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
brainstem intraparenchymal clear cell meningioma	DOID_4209
developmental cardiac valvular defect	DOID_0080633	[A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.]
nanophthalmos	DOID_0080634	[A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.]
optic disc anomalies with retinal and/or macular dystrophy	DOID_0080635	[A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.]
Elsahy-Waters syndrome	DOID_0080631	[A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation.]
syndromic microphthalmia	DOID_0080636	[A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body.]
obsolete recurrent cancer of gallbladder	DOID_6861
obsolete commensal Bifidobacteriales infectious disease	DOID_4200
ovarian squamous cell carcinoma	DOID_5531	[An ovarian carcinoma that derives_from squamous epithelial cells.]
obsolete Endobronchial hamartoma	DOID_6860
thymus squamous cell carcinoma	DOID_5530	[A squamous cell carcinoma that is located_in the thymus.]
oxyphilic endometrial endometrioid adenocarcinoma	DOID_6865	[An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells.]
brainstem	UBERON_0002298
endometrial squamous cell carcinoma	DOID_5533	[An endometrial carcinoma that has_material_basis in squamous cells.]
endometrial carcinoma	DOID_2871	[A endometrial cancer that is located_in the tissue lining the uterus.]
peroneal neuropathy	DOID_4201
ovarian squamous cell neoplasm	DOID_5532	[An ovary epithelial cancer that has_material_basis_in squamous cells.]
gallbladder squamous cell carcinoma	DOID_5535	[A squamous cell carcinoma that is located_in the gallbladder.]
renal pelvis squamous cell carcinoma	DOID_5534	[A squamous cell carcinoma that is located_in the renal pelvis.]
parasagittal meningioma	DOID_6869