OBO ID: DOID:0111589
Term Name: COACH syndrome Search Ontology:
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)
OTHER COACH syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM67 COACH syndrome 1 216360
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None