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COACH syndrome
Summary
- Synonym
-
- Gentile syndrome
- JS-H
- Joubert syndrome with congenital hepatic fibrosis
- Joubert syndrome with hepatic defect
- cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
- 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).
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111589
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002896 | Neoplasm of the liver |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0004422 | Biparietal narrowing |
| HP:0005248 | Intrahepatic biliary atresia |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0100626 | Chronic hepatic failure |
