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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:0000003 | Multicystic kidney dysplasia |
| HP:0000023 | Inguinal hernia |
| HP:0000083 | Renal insufficiency |
| HP:0000112 | Nephropathy |
| HP:0000202 | Orofacial cleft |
| HP:0000238 | Hydrocephalus |
| HP:0000256 | Macrocephaly |
| HP:0000276 | Long face |
| HP:0000369 | Low-set ears |
| HP:0000426 | Prominent nasal bridge |
