Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency

Preferred Label : Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency;

Symbol : EBS3;

CISMeF acronym : EBSB2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dystonin gene (DST, 113810.0002);

Prefixed ID : #615425;

Details

Origin ID

615425;

UMLS CUI

C3809470;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex due to BP230 deficiency [ORDO Disease]
- Epidermolysis bullosa simplex due to BP230 deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- epidermolysis bullosa simplex [DO Concept]
Genes related to phenotype
- Dystonin [OMIM gene]
HPO term(s)
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Nail dystrophy [HPO term]
ORDO concept(s)
- Epidermolysis bullosa simplex due to BP230 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- epidermolysis bullosa simplex [DO Concept]

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