Epidermolysis bullosa simplex 2e, with migratory circinate erythema

Preferred Label : Epidermolysis bullosa simplex 2e, with migratory circinate erythema;

Symbol : EBS2E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex with migratory circinate erythema;

Prefixed ID : #609352;

Details

Origin ID

609352;

UMLS CUI

C1836284;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex with circinate migratory erythema [ORDO Disease]
- Epidermolysis bullosa simplex with circinate migratory erythema (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex with migratory circinate erythema [MeSH concept]
- epidermolysis bullosa simplex with migratory circinate erythema [MeSH Supplementary 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]
- Erythema migrans [HPO term]
- Intra-epidermal blistering [HPO term]
- Neonatal onset [HPO term]
ORDO concept(s)
- Epidermolysis bullosa simplex with circinate migratory erythema [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex with circinate migratory erythema [ORDO Disease]
- Epidermolysis bullosa simplex with circinate migratory erythema (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex with migratory circinate erythema [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with migratory circinate erythema [MeSH concept]

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