FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term COACH syndrome ID (Ontology) DOID:0111589 (Human Disease)
Definition A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).
Also Known As "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" ; "Gentile syndrome" ; "Joubert syndrome with congenital hepatic fibrosis" (for all, see Synonyms field below)
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 Genes
 COACH syndrome       1
 for disease ribbon | COACH syndrome       1
 model of | COACH syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 COACH syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT
    "Gentile syndrome" EXACT
    "Joubert syndrome with congenital hepatic fibrosis" EXACT
    "Joubert syndrome with hepatic defect" EXACT
    "JS-H" EXACT OMO:0003012
Secondary IDs
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GARD:1410
MESH:C536430
MIM:216360
ORDO:1454
SNOMEDCT_US_2023_03_01:721847002
UMLS_CUI:C1857662