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aniridia-cerebellar ataxia-intellectual disability syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description 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.
Uniprot Description A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation.
Mondo Term and Equivalent IDs
MONDO:0008795:  aniridia-cerebellar ataxia-intellectual disability syndrome
DOID:0111578: 
GARD:0000013: 
MESH:C536370: 
Orphanet:1065: 
SCTID:253176002: 
UMLS:C0431401: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)