Erythrokeratodermia variabilis et progressiva 4

Preferred Label : Erythrokeratodermia variabilis et progressiva 4;

Symbol : EKVP4;

CISMeF acronym : EKVP4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-ketodihydrosphingosine reductase gene (KDSR, 136440.0001);

Prefixed ID : #617526;

Détails

Origin ID

617526;

UMLS CUI

C4479620;

Currated CISMeF NLP mapping
- erythrokeratodermia variabilis et progressiva 4 [DO Concept]
DO Cross reference
- erythrokeratodermia variabilis et progressiva 4 [DO Concept]
Genes related to phenotype
- 3-ketodihydrosphingosine reductase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Congenital onset [HPO term]
- Epidermal acanthosis [HPO term]
- Erythema [HPO term]
- Hyperkeratosis [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
ORDO concept(s)
- Erythrokeratodermia variabilis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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