Erythrokeratodermia variabilis et progressiva 3

Preferred Label : Erythrokeratodermia variabilis et progressiva 3;

Symbol : EKVP3;

CISMeF acronym : EKVP3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 gap junction protein (GJA1, 121014.0024);

Prefixed ID : #617525;

Details

Origin ID

617525;

UMLS CUI

C4479619;

Currated CISMeF NLP mapping
- erythrokeratodermia variabilis et progressiva 3 [DO Concept]
DO Cross reference
- erythrokeratodermia variabilis et progressiva 3 [DO Concept]
Genes related to phenotype
- Gap junction protein, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Erythema [HPO term]
- Hypergranulosis [HPO term]
- Hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
ORDO concept(s)
- Erythrokeratodermia variabilis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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