Erythrokeratodermia variabilis et progressiva 2

Preferred Label : Erythrokeratodermia variabilis et progressiva 2;

Symbol : EKVP2;

CISMeF acronym : EKVP2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-4 gap junction protein (GJB4, 605425.0001);

Prefixed ID : #617524;

Details

Origin ID

617524;

UMLS CUI

C4479618;

Currated CISMeF NLP mapping
- erythrokeratodermia variabilis et progressiva 2 [DO Concept]
DO Cross reference
- erythrokeratodermia variabilis et progressiva 2 [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Erythema [HPO term]
- Hypertrichosis [HPO term]
- Palmoplantar keratoderma [HPO term]
ORDO concept(s)
- Erythrokeratodermia variabilis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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