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aniridia-cerebellar ataxia-intellectual disability syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008795

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. [ Orphanet:1065 ]

Term info

database cross reference
  • OMIM:206700 (Orphanet:1065/e)
  • MESH:C536370 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • GARD:0000013 (MONDO:equivalentTo)
  • DOID:0111578 (MONDO:equivalentTo)
  • UMLS:C0431401 (Orphanet:1065/e)
  • SCTID:253176002 (MONDO:equivalentTo)
  • Orphanet:1065 (OMIM:206700)
Subsets

gard_rare, ordo_malformation_syndrome

A synonym that is historic and discouraged
aniridia, cerebellar ataxia, and mental retardation [ OMIM:206700 ]

abbreviation
GLSP [ OMIM:206700 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

exactMatch

http://identifiers.org/snomedct/253176002, http://identifiers.org/mesh/C536370, https://omim.org/entry/206700, http://purl.obolibrary.org/obo/Orphanet_1065, http://linkedlifedata.com/resource/umls/id/C0431401, http://purl.obolibrary.org/obo/DOID_0111578

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Gillespie syndrome

has related synonym

aniridia, cerebellar ataxia and mental deficiency, GLSP, aniridia, cerebellar ataxia, and intellectual disability, aniridia, cerebellar ataxia, and mental retardation, GILLESPIE syndrome

id

MONDO:0008795

Term relations

Subclass of: