ZFIN Human Disease: COACH syndrome

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:	GARD:1410 MESH:C536430 OMIM:216360 ORDO:1454 SNOMEDCT_US_2023_03_01:721847002 UMLS_CUI:C1857662
Ontology:	Human Disease ( DOID:0111589 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TMEM67	tmem67	COACH syndrome 1	216360

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)