All terms in DOID

Label Id Description
Sandfly fever Naples virus NCBITaxon_206160
Sabinas brittle hair syndrome DOID_0111874 [A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.]
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.]
photosensitive trichothiodystrophy 3 DOID_0111871 [A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.]
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.]
nonphotosensitive trichothiodystrophy 6 DOID_0111872 [A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.]
Diamond-Blackfan anemia 6 DOID_0111879 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1.]
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 benign 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
obsolete commensal Staphylococcaceae infectious disease DOID_0050316