COACH syndrome
Information
- Disease name
- COACH syndrome
- Disease ID
- DOID:0111589
- Description
- "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)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19574260]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:1410
- Cross Reference ID (Disease Ontology)
- MESH:C536430
- Cross Reference ID (Disease Ontology)
- MIM:216360
- Cross Reference ID (Disease Ontology)
- ORDO:1454
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:721847002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1857662
- Exact Synonym (Disease Ontology)
- cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
- Exact Synonym (Disease Ontology)
- Gentile syndrome
- Exact Synonym (Disease Ontology)
- Joubert syndrome with congenital hepatic fibrosis
- Exact Synonym (Disease Ontology)
- Joubert syndrome with hepatic defect
- Exact Synonym (Disease Ontology)
- JS-H