Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
retinitis pigmentosa 6	DOID_0110413	[A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2.]
retinitis pigmentosa 69	DOID_0110410	[A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11.]
retinitis pigmentosa 60	DOID_0110411	[A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33.]
retinitis pigmentosa Y-linked	DOID_0110418	[A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.]
retinitis pigmentosa with or without situs inversus	DOID_0110419	[A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13.]
retinitis pigmentosa 24	DOID_0110416	[A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27.]
retinitis pigmentosa 34	DOID_0110417	[A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28.]
caecum	UBERON_0001153
cecal benign neoplasm	DOID_1517	[An intestinal benign neoplasm that is located_in the cecum.]
Jervell-Lange Nielsen syndrome	DOID_2842
obsolete syphilitic endocarditis	DOID_1516
obsolete mitral valve syphilitic endocarditis	DOID_1515
dilated cardiomyopathy 1J	DOID_0110440	[A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.]
malignant neoplasm of acoustic nerve	DOID_2814
cranial nerve malignant neoplasm	DOID_2815
malignant oculomotor nerve tumor	DOID_2816
cranial nerve III tumor	DOID_2817
obsolete Varicella-zoster virus hepatitis	DOID_0050210	[A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue.]
obsolete Campylobacter jejuni gastroenteritis	DOID_0050212	[A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting.]
swine influenza	DOID_0050211	[An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.]