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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:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000567 | Chorioretinal coloboma |
| HP:0000588 | Optic disc coloboma |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| HP:0000657 | Oculomotor apraxia |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
