Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
diffuse scleroderma	DOID_1580
systemic scleroderma	DOID_418	[A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.]
alveolus	UBERON_0003215
obsolete Elizabethkingia meningoseptica meningitis	DOID_0050391
obsolete Capnocytophaga canimorsus endocarditis	DOID_0050390
glandular tularemia	DOID_0050382	[A tularemia that results_in swelling of regional lymph glands.]
autosomal recessive nonsyndromic deafness 36	DOID_0110494	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.]
obsolete Chlamydia trachomatis epididymitis	DOID_0050381
autosomal recessive nonsyndromic deafness 37	DOID_0110495	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.]
obsolete single episode moderate major depression	DOID_1599
obsolete commensal Helicobacteraceae infectious disease	DOID_0050384
autosomal recessive nonsyndromic deafness 33	DOID_0110492	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1.]
typhoidal tularemia	DOID_0050383	[A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.]
autosomal recessive nonsyndromic deafness 35	DOID_0110493	[An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24.]
obsolete single episode mild major depression	DOID_1597
obsolete Acinetobacter baumannii pneumonia	DOID_0050386
autosomal recessive nonsyndromic deafness 31	DOID_0110490	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32.]
mental depression	DOID_1596
obsolete commensal Helicobacter infectious disease	DOID_0050385
autosomal recessive nonsyndromic deafness 32	DOID_0110491	[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in variation in the chromosome region 1p22.1-p13.3.]