Search Ontology:
Human Disease

COACH syndrome

Term ID
DOID:0111589
Synonyms
  • cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
  • Gentile syndrome
  • Joubert syndrome with congenital hepatic fibrosis
  • Joubert syndrome with hepatic defect
  • JS-H
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). https://www.ncbi.nlm.nih.gov/pubmed/19574260
References
Ontology
Human Disease   ( DOID:0111589 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models