All terms in DOID

Label Id Description
CK syndrome DOID_0111898 [A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28.]
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.]
Diamond-Blackfan anemia 1 DOID_0111895 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2.]
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.]
susceptibility to leprosy 3 MIM_246300
Diamond-Blackfan anemia 18 DOID_0111896 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.]
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.]
Diamond-Blackfan anemia 16 DOID_0111893 [A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31.]
autosomal dominant nonsyndromic deafness 33 DOID_0110562 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34.]
Opisthorchis NCBITaxon_6197
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.]
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis DOID_0111894 [A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2.]
obsolete thiourea tasting DOID_0050334
hypoglycemic coma DOID_1607 [A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma.]
obsolete Burkholderia cepacia infectious disease DOID_0050337
susceptibility to autosomal dominant parkinson disease 11 MIM_607688
hypophosphatemia DOID_0050336 [A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.]
obsolete susceptibility to childhood absence epilepsy 2 MIM_607681
obsolete Avulavirus infectious disease DOID_2930 [A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes.]
susceptibility to idiopathic generalized epilepsy 9 MIM_607682