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ataxia - deafness - intellectual disability syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008838

This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. [ Orphanet:1188 ]

Term info

database cross reference
  • SCTID:720517001 (MONDO:equivalentTo)
  • OMIM:208850 (Orphanet:1188/e)
  • MESH:C535295 (MONDO:equivalentTo)
  • Orphanet:1188 (OMIM:208850)
  • GARD:0004644 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
ataxia, hearing loss, and mental retardation [ GARD:0004644 ]

definition

This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1188, http://identifiers.org/mesh/C535295, http://identifiers.org/snomedct/720517001, https://omim.org/entry/208850

has exact synonym

Reardon-Baraitser syndrome, ataxia-hearing loss-intellectual disability syndrome

has related synonym

ataxia-deafness-retardation syndrome, Adr syndrome, familial ataxia, deafness, and developmental delay, ataxia, hearing loss, and mental retardation, ataxia, hearing loss, and intellectual disability, Reardon Wilson Cavanagh syndrome

id

MONDO:0008838

Term relations