| Metadata | |
|---|---|
| ID | DOID:0111589 |
| Name | COACH syndrome |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:721847002 |
| Subsets |
DO_rare_slim |
| 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] |
| Parent Relationships |
is_a syndrome |