Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete glomus tumor of uncertain malignant potential	DOID_5239
Saccharomycetes	NCBITaxon_4891
Saccharomycotina	NCBITaxon_147537
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 hypersensitivity 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
cortical thymoma	DOID_6530
spinocerebellar ataxia type 1 with axonal neuropathy	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
adult central nervous system germinoma	DOID_7867
mature B-cell neoplasm	DOID_706
obsolete monomorphic PTLD	DOID_6533
obsolete inborn errors fructose metabolism	DOID_5205
congenital amegakaryocytic thrombocytopenia	DOID_0090118	[A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34.]