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ataxia telangiectasia

Go to external page 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 ]

This is just here as a test because I lose it

Term information

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

gard_rare, ordo_disease

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://identifiers.org/mesh/D001260
  • http://identifiers.org/snomedct/68504005
  • http://purl.obolibrary.org/obo/NCIT_C2887
  • http://linkedlifedata.com/resource/umls/id/C0004135
  • http://purl.obolibrary.org/obo/DOID_12704
  • http://www.orpha.net/ORDO/Orphanet_100
has exact synonym
  • ataxia telangiectasia
  • Louis-Bar syndrome
  • Louis Bar syndrome
  • ataxia telangiectasia syndrome
  • boder-Sedgwick syndrome
  • ataxia - telangiectasia
has related synonym
  • AT1
  • cerebello-oculocutaneous telangiectasia
  • ataxia-telangiectasia
  • AT, complementation group A
  • AT, complementation group D
  • AT, complementation group E
  • ataxia - telangiectasia variant
  • immunodeficiency with ataxia telangiectasia
  • AT
  • AT, complementation group C
id
  • MONDO:0008840
seeAlso
  • https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia