All terms in DOID

Label Id Description
Treacher Collins syndrome DOID_2908 [A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.]
mucinous pancreas adenocarcinoma DOID_0080782 [A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.]
obsolete X-linked sensorineural deafness DOID_0080783
urinary tract infection DOID_0080784 [An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.]
Brown-Vialetto-Van Laere syndrome 1 DOID_0080785 [A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.]
Ascomycota NCBITaxon_4890
Nasu-Hakola disease DOID_0090112 [A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.]
RIDDLE syndrome DOID_0090113 [A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.]
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome DOID_0090110 [An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.]
PCWH syndrome DOID_0090111 [A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.]
spondylocarpotarsal synostosis syndrome DOID_0090116 [A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.]
obsolete monomorphic B-cell PTLD DOID_6532
thiamine-responsive megaloblastic anemia syndrome DOID_0090117 [A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.]
Sorsby's fundus dystrophy DOID_0090114 [A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.]
hereditary retinal dystrophy DOID_8500
thymoma type B2 DOID_6530 [A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli.]
spinocerebellar ataxia with axonal neuropathy 1 DOID_0090115 [A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.]
obsolete plasma cell PTLD DOID_6535
mature B-cell neoplasm DOID_706
adult central nervous system germinoma DOID_7867