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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620236
http://purl.bioontology.org/ontology/OMIM/620236
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES |
| Synonyms |
CMH29
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMH29
|
|---|---|
| prefLabel | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES
|
| Gene Symbol |
KRIP6
KLHL24
EBS6
CMH29
|
| Scope Statement | Onset in second to third decade of life [MISCELLANEOUS]
Caused by mutation in the kelch-like-24 gene (KLHL24, 611295.0001) [MOLECULAR BASIS]
Risk of sudden death [MISCELLANEOUS]
Patients exhibit no skin abnormalities [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q27.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620236
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774308
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |