Epidermolysis bullosa simplex 2f, with mottled pigmentation

Preferred Label : Epidermolysis bullosa simplex 2f, with mottled pigmentation;

Symbol : EBS2F;

CISMeF acronym : EBSMP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering; EBSMP; Epidermolysis bullosa simplex with mottled pigmentation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin-5 gene (KRT5, 148040.0009);

Prefixed ID : #131960;

Details

Origin ID

131960;

UMLS CUI

C0432316;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex with mottled pigmentation [ICD-11 More detail]
- Epidermolysis bullosa simplex with mottled pigmentation [MeSH concept]
- Epidermolysis bullosa simplex with mottled pigmentation [ORDO Disease]
- Epidermolysis bullosa simplex with mottled pigmentation (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex with mottled pigmentation [Disease (Nov.)]
- epidermolysis bullosa simplex with mottled pigmentation [DO Concept]
- epidermolysis bullosa simplex with mottled pigmentation [MeSH Supplementary Concept]
DO Cross reference
- epidermolysis bullosa simplex with mottled pigmentation [DO Concept]
Genes related to phenotype
- Keratin 5, type II [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Discrete 2 to 5-mm hyper- and hypopigmented macules [HPO term]
- Hypoplastic fifth toenail [HPO term]
- Infantile onset [HPO term]
- Intra-epidermal blistering [HPO term]
- Mottled pigmentation of the trunk and proximal extremities [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Onychogryposis [HPO term]
- Punctate palmoplantar hyperkeratosis [HPO term]
ORDO concept(s)
- Epidermolysis bullosa simplex with mottled pigmentation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex with mottled pigmentation [ORDO Disease]
- Epidermolysis bullosa simplex with mottled pigmentation [MeSH concept]
- Epidermolysis bullosa simplex with mottled pigmentation (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex with mottled pigmentation [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with mottled pigmentation [Disease (Nov.)]
- epidermolysis bullosa simplex with mottled pigmentation [DO Concept]

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