Erythrokeratodermia variabilis et progressiva 7

Preferred Label : Erythrokeratodermia variabilis et progressiva 7;

Symbol : EKVP7;

Type : Phenotype, molecular basis known;

Prefixed ID : #619209;

Details

Origin ID

619209;

UMLS CUI

C5543106;

Genes related to phenotype
- P53 effector related to pmp22 [OMIM gene]
HPO term(s)
- Anhidrosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dystrophic toenail [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Progressive symmetric erythrokeratodermia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients