Erythrokeratodermia variabilis et progressiva 5

Preferred Label : Erythrokeratodermia variabilis et progressiva 5;

Symbol : EKVP5;

CISMeF acronym : EKVP5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the keratin 83 gene (KRT83, 602765.0003);

Prefixed ID : #617756;

Détails

Origin ID

617756;

UMLS CUI

C4540331;

Currated CISMeF NLP mapping
- erythrokeratodermia variabilis et progressiva 5 [DO Concept]
DO Cross reference
- erythrokeratodermia variabilis et progressiva 5 [DO Concept]
Genes related to phenotype
- Keratin 83, type II [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hyperkeratosis [HPO term]
- Joint stiffness [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
ORDO concept(s)
- Progressive symmetric erythrokeratodermia [ORDO Disease]
See also inter- (CISMeF)
- KRT83 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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