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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619111
http://purl.bioontology.org/ontology/OMIM/619111
|
|---|---|
| Preferred Name | COACH SYNDROME 2 |
| Synonyms |
COACH2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | COACH2
|
|---|---|
| prefLabel | COACH SYNDROME 2
|
| Gene Symbol |
RP93
CC2D2A
COACH2
MKS6
KIAA1345
|
| Scope Statement | COACH is an acronym: Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis [MISCELLANEOUS]
Caused by mutation in the coiled-coil and C2 domains-containing protein 2A gene (CC2D2A, 612013.0004) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4p15.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619111
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5436837
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |