Search Ontology:
Human Disease
COACH syndrome
- Term ID
- DOID:0111589
- Synonyms
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- 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
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- GARD:1410
- MESH:C536430
- MIM:216360
- ORDO:1454
- SNOMEDCT_US_2023_03_01:721847002
- UMLS_CUI:C1857662
- Ontology
- Human Disease ( DOID:0111589 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models