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ataxia telangiectasia

^ http://purl.obolibrary.org/obo/MONDO_0008840

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. [ Orphanet:100 ]

Term info

database cross reference
  • UMLS:C1876175 (OMIM:208900)
  • OMIM:208900 (Orphanet:100/e)
  • ICD9:334.8 (MONDO:relatedTo)
  • GARD:0005862 (MONDO:equivalentTo)
  • MedDRA:10003594 (Orphanet:100/e)
  • NCIT:C2887 (MONDO:equivalentTo)
  • Orphanet:100 (OMIM:208900)
  • DOID:12704 (MONDO:equivalentTo)
  • SCTID:68504005 (MONDO:equivalentTo)
  • UMLS:C0004135 (Orphanet:100/e)
  • MESH:D001260 (Orphanet:100/e)
Subsets

gard_rare, ordo_disease

abbreviation
AT1 [ OMIM:208900 ]

abbreviation
AT [ MONDO:Lexical OMIM:208900 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10003594

definition

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

exactMatch

https://omim.org/entry/208900, http://purl.obolibrary.org/obo/DOID_12704, http://identifiers.org/snomedct/68504005, http://purl.obolibrary.org/obo/NCIT_C2887, http://purl.obolibrary.org/obo/Orphanet_100, http://identifiers.org/mesh/D001260, http://linkedlifedata.com/resource/umls/id/C0004135

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019293, http://purl.obolibrary.org/obo/MONDO_0042983

has exact synonym

ataxia telangiectasia syndrome, ataxia telangiectasia, ataxia - telangiectasia, Louis-Bar syndrome, boder-Sedgwick syndrome, Louis Bar syndrome

has related synonym

ataxia-telangiectasia, immunodeficiency with ataxia telangiectasia, AT, cerebello-oculocutaneous telangiectasia, AT, complementation group E, AT, complementation group D, ataxia - telangiectasia variant, AT, complementation group C, AT1, AT, complementation group A

id

MONDO:0008840

seeAlso

https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia