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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617294
http://purl.bioontology.org/ontology/OMIM/617294
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|---|---|
| Preferred Name | EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY |
| Synonyms |
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EBS6
EBSSH
EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH SCARRING AND HAIR LOSS, WITH OR WITHOUT DILATED CARDIOMYOPATHY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EBS6
EBSSH
EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH SCARRING AND HAIR LOSS, WITH OR WITHOUT DILATED CARDIOMYOPATHY
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|---|---|
| prefLabel | EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY
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| Gene Symbol |
KRIP6
KLHL24
EBS6
CMH29
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| Scope Statement | Sudden cardiac death may occur [MISCELLANEOUS]
Neonatal death can occur from extensive skin denudation and secondary infection [MISCELLANEOUS]
Dilated cardiomyopathy may develop in young adulthood [MISCELLANEOUS]
Skin fragility improves with age [MISCELLANEOUS]
Caused by mutation in the KELCH-like-24 gene (KLHL24, 611295.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 3q27.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 617294
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310631
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |