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cerebellar ataxia, intellectual disability, and dysequilibrium

Go to external page http://purl.obolibrary.org/obo/MONDO_0009133

A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. [ Orphanet:1766 ]

Synonyms: CAMRQ cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome non-progressive cerebellar ataxia-intellectual disability syndrome CAMRQ syndrome dialysis dysequilibrium syndrome cerebellar ataxia, mental retardation and dysequlibrium syndrome cerebellar ataxia, mental retardation, and dysequilibrium dysequilibrium syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:230782004 (MONDO:equivalentTo)
  • Orphanet:1766 (OMIM:224050)
  • OMIMPS:224050 (MONDO:equivalentTo)
  • MESH:C535731 (Orphanet:1766/e)
  • MedDRA:10013140 (Orphanet:1766/e)
  • GARD:1998 (Orphanet:1766)
  • NCIT:C114781 (MONDO:equivalentTo)
  • DOID:0050997 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, prototype_pattern, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10013140

exactMatch

http://identifiers.org/mesh/C535731

http://www.orpha.net/ORDO/Orphanet_1766

https://omim.org/phenotypicSeries/PS224050

http://purl.obolibrary.org/obo/DOID_0050997

http://purl.obolibrary.org/obo/NCIT_C114781

http://identifiers.org/snomedct/230782004

has related synonym

cerebellar disorder, nonprogressive, with mental retardation

VLDLRCH

DES

cerebellar hypoplasia, VLDLR associated

id

MONDO:0009133

seeAlso

https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome