Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy

Preferred Label : Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy;

Symbol : EBS6;

CISMeF acronym : EBSSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH; Epidermolysis bullosa simplex 6, generalized intermediate, with scarring and hair loss, with or without dilated cardiomyopathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the KELCH-like-24 gene (KLHL24, 611295.0001);

Prefixed ID : #617294;

Details

Origin ID

617294;

UMLS CUI

C4310631;

Currated CISMeF NLP mapping
- Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy [NCIt concept]
- Intermediate epidermolysis bullosa simplex with cardiomyopathy [ORDO Disease]
- Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Kelch-like 24 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Alopecia [HPO term]
- Alopecia of scalp [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Dermal atrophy [HPO term]
- Diffuse palmoplantar hyperkeratosis [HPO term]
- Diffuse palmoplantar keratoderma [HPO term]
- Dystrophic toenail [HPO term]
- Hypopigmentation of the skin [HPO term]
- Onychogryposis of toenails [HPO term]
- Sparse body hair [HPO term]
ORDO concept(s)
- Intermediate epidermolysis bullosa simplex with cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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