All terms in DOID

Label Id Description
Williams-Beuren syndrome DOID_1928 [A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.]
obsolete dysplastic nevus DOID_0050653
pseudo-TORCH syndrome 1 DOID_0050656 [A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2.]
Bamforth-Lazarus syndrome DOID_0050655 [A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.]
Bart-Pumphrey syndrome DOID_0050658 [A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.]
Cowden syndrome 1 DOID_0050657 [A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.]
hereditary spastic paraplegia 57 DOID_0110809 [A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12.]
obsolete endocrine syndrome DOID_1922
biotin-responsive basal ganglia disease DOID_0050659 [A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.]
Klinefelter syndrome DOID_1921 [A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.]
acyl group CHEBI_22221
Laurence-Moon syndrome DOID_1930 [A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.]
Rh deficiency syndrome DOID_0050641 [A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12.]
anauxetic dysplasia 1 DOID_0050640 [An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.]
adrenal cortex UBERON_0001235
adrenal medulla UBERON_0001236
collecting duct of renal tubule UBERON_0001232
fallopian tube UBERON_0003889
obsolete anonychia congenita DOID_0050643
hypochromic microcytic anemia DOID_0050642 [A microcytic anemia characterized by paler than normal blood cells.]