Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Huntington's disease	DOID_12858	[A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.]
Achilles bursitis	DOID_12857
bursitis	DOID_2965
Marinesco-Sjogren syndrome	DOID_0080195	[A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.]
mandibulofacial dysostosis, Guion-Almeida type	DOID_0080196	[A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.]
congenital muscular dystrophy with cataracts and intellectual disability	DOID_0080197	[A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.]
congenital muscular dystrophy	DOID_0050557	[A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.]
infantile histiocytoid cardiomyopathy	DOID_0080198	[An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b.]
PTEN hamartoma tumor syndrome	DOID_0080191	[A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene.]
relapsed/refractory diffuse large B-cell lymphoma	DOID_0080192	[A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.]
diffuse large B-cell lymphoma	DOID_0050745	[A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.]
superior semicircular canal dehiscence	DOID_0080193	[An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.]
Carey-Fineman-Ziter syndrome	DOID_0080194	[A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.]
Severe acute respiratory syndrome-related coronavirus	NCBITaxon_694009
Sarbecovirus	NCBITaxon_2509511
myeloid neoplasms associated with PDGFRB rearrangement	DOID_0080166	[A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts.]
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1	DOID_0080164	[A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.]
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	DOID_0080167	[A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.]
tricuspid atresia	DOID_0080169	[A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.]
Abnormality of the nervous system	HP_0000707	[An abnormality of the nervous system.]