Epidermolysis bullosa dystrophica, pretibial

Preferred Label : Epidermolysis bullosa dystrophica, pretibial;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa, pretibial; Deb, pretibial; Dystrophic epidermolysis bullosa, pretibial;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0007);

Prefixed ID : #131850;

Details

Origin ID

131850;

UMLS CUI

C0432321;

Automatic exact mappings (from CISMeF team)
- Pretibial blistering [HPO term]
Broader ORDO disease(s)
- Dystrophic epidermolysis bullosa [ORDO Disease]
Currated CISMeF NLP mapping
- Epidermolysis bullosa, pretibial [MeSH concept]
- Localized dystrophic epidermolysis bullosa, pretibial form [ORDO Disease]
- Pretibial epidermolysis bullosa (disorder) [SNOMED CT concept]
- epidermolysis bullosa, pretibial [MeSH Supplementary Concept]
- pretibial epidermolysis bullosa [SNOMED Notion]
Genes related to phenotype
- Collagen, type VII, alpha-1 [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hyperkeratosis [HPO term]
- Nail dystrophy [HPO term]
- Pretibial blistering [HPO term]
- Pruritus [HPO term]
ORDO concept(s)
- Localized dystrophic epidermolysis bullosa, pretibial form [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa, pretibial [MeSH concept]
- Localized dystrophic epidermolysis bullosa, pretibial form [ORDO Disease]
- Pretibial blistering [HPO term]
- Pretibial epidermolysis bullosa (disorder) [SNOMED CT concept]
- epidermolysis bullosa, pretibial [MeSH Supplementary Concept]
- pretibial epidermolysis bullosa [SNOMED Notion]

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