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cerebellar ataxia-ectodermal dysplasia syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008934

Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. [ Orphanet:1174 ]

Term info

database cross reference
  • MESH:C535350 (Orphanet:1174/e)
  • UMLS:C1859306 (Orphanet:1174/e)
  • SCTID:715371006 (MONDO:equivalentTo)
  • Orphanet:1174 (OMIM:212835)
  • GARD:0001189 (MONDO:equivalentTo)
  • OMIM:212835 (Orphanet:1174/e)
Subsets

ordo_malformation_syndrome

definition

Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859306, https://omim.org/entry/212835, http://identifiers.org/mesh/C535350, http://identifiers.org/snomedct/715371006, http://purl.obolibrary.org/obo/Orphanet_1174

has related synonym

ectodermal dysplasia and cerebellar ataxia, cerebellar ataxia ectodermal dysplasia, cerebellar ataxia and ectodermal dysplasia, cerebellar ataxia - ectodermal dysplasia

id

MONDO:0008934

Term relations