All terms in DOID

Label Id Description
spinocerebellar ataxia 5 DOID_0050882 [An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.]
mucosa of vagina UBERON_0004983
amyotrophic lateral sclerosis type 18 DOID_0060209 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.]
IMAGe syndrome DOID_0050885 [A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.]
amyotrophic lateral sclerosis type 9 DOID_0060200 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.]
triosephosphate isomerase deficiency DOID_0050884 [A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.]
Townes-Brocks syndrome DOID_0050887 [A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.]
Troyer syndrome DOID_0050886 [A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.]
plum fruit food product FOODON_00002161
ricin toxin NCIT_C809 [A phytotoxin and lectin comprised of a homodimer of ricin toxin A and B chains derived from the seeds of Ricinus communis, the castor oil plant, with protein synthesis inhibitory activity and extremely high cytotoxicity. Following ingestion, inhalation or injection of ricin, the B chain binds to complex carbohydrates containing either terminal N-acetylgalactosamine or beta-1,4-linked galactose residues on the surface of cells. Subsequently, the ricin A/B heterodimer is internalized and undergoes retrograde transport to the endoplasmic reticulum (ER). In the ER, the A chain, which has enzymatic activity that is sterically hindered by the B chain, is proteolytically released from the heterodimer by protein disulfide isomerase. In the ER, the free A chain has N-glycosidase activity that cleaves 28S rRNA. This enzymatic cleavage disrupts the ribosome, halts protein synthesis, and can lead to cell death. The extreme cytotoxicity of ricin makes it an attractive candidate for artificial fusion with binding proteins to create cell-type-specific toxins.]
anismus DOID_0050839 [A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.]
UPD SO_0001744
maternal_uniparental_disomy SO_0001745
paternal_uniparental_disomy SO_0001746
neuron projection bundle connecting eye with brain UBERON_0004904
peripheral artery disease DOID_0050830 [An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.]
familial encephalopathy with neuroserpin inclusion bodies DOID_0050831 [A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.]
CHARGE syndrome DOID_0050834 [A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.]
orotic aciduria DOID_0050833 [A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.]
rheumatic heart disease DOID_0050827 [A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.]