Epidermolysis bullosa with congenital localized absence of skin and deformity of nails

Preferred Label : Epidermolysis bullosa with congenital localized absence of skin and deformity of nails;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa dystrophica, bart type;

Inheritance : Autosomal dominant;

Prefixed ID : #132000;

Details

Origin ID

132000;

UMLS CUI

C0268371;

Automatic exact mappings (from CISMeF team)
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [DO Concept]
CISMeF manual mappings
- Bart syndrome [Disease (Nov.)]
Currated CISMeF NLP mapping
- Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) [SNOMED CT concept]
- dominant dystrophic epidermolysis bullosa with absence of skin [SNOMED Notion]
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [MeSH Supplementary Concept]
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [MeSH concept]
DO Cross reference
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [DO Concept]
Genes related to phenotype
- Collagen, type VII, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital localized absence of skin [HPO term]
- Fragile skin [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Bart syndrome [Disease (Nov.)]
- Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) [SNOMED CT concept]
- dominant dystrophic epidermolysis bullosa with absence of skin [SNOMED Notion]
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [MeSH Supplementary Concept]
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [MeSH concept]

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