FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Gillespie syndrome ID (Ontology) DOID:0111578 (Human Disease)
Definition A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.
Also Known As "aniridia, cerebellar ataxia and mental deficiency" ; "aniridia-cerebellar ataxia-intellectual disability syndrome" ; "GLSP"
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 Genes
 Gillespie syndrome       1
 for disease ribbon | Gillespie syndrome       1
 model of | Gillespie syndrome       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
disease                        |
 |__syndrome___________________|
                               Gillespie syndrome  1 rec.
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Is a autosomal genetic disease
syndrome
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Synonyms
  • "aniridia, cerebellar ataxia and mental deficiency" EXACT
    "aniridia-cerebellar ataxia-intellectual disability syndrome" EXACT
    "GLSP" EXACT OMO:0003012
Secondary IDs
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GARD:13
MESH:C536370
MIM:206700
ORDO:1065
SNOMEDCT_US_2023_03_01:253176002
UMLS_CUI:C0431401