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

• GARD:1410
• MESH:C536430
• OMIM:216360
• ORDO:1454
• SNOMEDCT_US_2023_03_01:721847002
• UMLS_CUI:C1857662

Ontology

Human Disease   ( DOID:0111589 )