Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal dominant nonsyndromic deafness 16	DOID_0110547	[An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3.]
autosomal dominant nonsyndromic deafness 12	DOID_0110544	[An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.]
autosomal dominant nonsyndromic deafness 13	DOID_0110545	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.]
autosomal dominant nonsyndromic deafness 10	DOID_0110542	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.]
Sandfly fever Naples phlebovirus	NCBITaxon_1933189
autosomal dominant nonsyndromic deafness 11	DOID_0110543	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.]
autosomal recessive nonsyndromic deafness 98	DOID_0110540	[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22.]
malaria, susceptibility to	OMIM_611162
autosomal dominant nonsyndromic deafness 1	DOID_0110541	[An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.]
autosomal dominant nonsyndromic deafness 17	DOID_0110548	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12.]
autosomal dominant nonsyndromic deafness 18	DOID_0110549	[An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22.]
obsolete primary Brucellaceae infectious disease	DOID_0050313
obsolete primary Campylobacteraceae infectious disease	DOID_0050312
breast myofibroblastoma	DOID_1629	[A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation.]
obsolete commensal Clostridiaceae infectious disease	DOID_0050315
intraductal papillary breast neoplasm	DOID_1628	[An intraductal breast neoplasm that is characterized by fingerlike growth projections.]
obsolete Orbivirus infectious disease	DOID_2950	[A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks.]
obsolete primary Erysipelotrichaceae infectious disease	DOID_0050314
intraductal papilloma	DOID_1627
obsolete commensal Streptococcaceae infectious disease	DOID_0050317