Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Opisthorchiida	NCBITaxon_6193
Chediak-Higashi syndrome	DOID_2935	[A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene.]
obsolete Parvoviridae infectious disease	DOID_2936	[A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses.]
obsolete Human herpesvirus 8 infectious disease	DOID_2937	[A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8.]
LADD syndrome	DOID_0050331	[A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.]
obsolete Epstein-Barr virus infectious disease	DOID_2938	[A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva.]
obsolete Herpesviridae infectious disease	DOID_2939	[A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses.]
obsolete congenital anosmia	DOID_0050333
enlarged vestibular aqueduct	DOID_0050332	[A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.]
autosomal dominant nonsyndromic deafness 43	DOID_0110568	[An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12.]
Cestoda	NCBITaxon_6199
autosomal dominant nonsyndromic deafness 44	DOID_0110569	[An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.]
autosomal dominant nonsyndromic deafness 40	DOID_0110566	[An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12.]
autosomal dominant nonsyndromic deafness 41	DOID_0110567	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24.]
autosomal dominant nonsyndromic deafness 3A	DOID_0110564	[An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.]
autosomal dominant nonsyndromic deafness 3B	DOID_0110565	[An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.]
autosomal dominant nonsyndromic deafness 33	DOID_0110562	[An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34.]
autosomal dominant nonsyndromic deafness 36	DOID_0110563	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.]
bradyopsia	DOID_0050335	[A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes.]
obsolete thiourea tasting	DOID_0050334