Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Huntington's disease-like 1	DOID_0090103	[A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.]
Huntington's disease-like 2	DOID_0090104	[A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.]
obsolete secondary cardiac lymphoma	DOID_6546
demyelinating polyneuropathy	DOID_5214
autosomal dominant hypocalcemia	DOID_0090109	[A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.]
chronic inflammatory demyelinating polyradiculoneuropathy	DOID_5213
uterine corpus atypical polypoid adenomyoma	DOID_7878	[An atypical polypoid adenomyoma that is located_in the uterine corpus.]
heart lymphoma	DOID_6547
adult xanthogranuloma	DOID_7875
obsolete atypical meningioma	DOID_6544
autosomal dominant hypocalcemia 1	DOID_0090107	[An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.]
obsolete adult atypical meningioma	DOID_6545
obsolete ephemeral fever	DOID_5215	[A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation.]
autosomal dominant hypocalcemia 2	DOID_0090108	[An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.]
angiomatous meningioma	DOID_6548
obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma	DOID_6549
pancreatic non-functioning delta cell tumor	DOID_7840
pediatric cerebral ependymoblastoma	DOID_7841
lung occult squamous cell carcinoma	DOID_6510
lung squamous cell carcinoma	DOID_3907	[A non-small cell lung carcinoma that has_material_basis_in the squamous cell.]