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aniridia-cerebellar ataxia-intellectual disability syndrome

Go to external page 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 ]

Synonyms: aniridia-cerebellar ataxia-intellectual disability syndrome Gillespie syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0431401 (Orphanet:1065/e)
  • DOID:0111578 (MONDO:equivalentTo)
  • Orphanet:1065 (OMIM:206700)
  • SCTID:253176002 (MONDO:equivalentTo)
  • GARD:13 (Orphanet:1065)
  • MESH:C536370 (MONDO:equivalentTo)
  • NORD:786 (MONDO:NORD)
  • OMIM:206700 (Orphanet:1065/e)
  • ICD9:759.89 (MONDO:relatedTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6878

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

exactMatch

http://identifiers.org/snomedct/253176002

http://identifiers.org/mesh/C536370

https://omim.org/entry/206700

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

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008795

Term relations