Porokeratosis 9, multiple types

Preferred Label : Porokeratosis 9, multiple types;

Symbol : POROK9;

CISMeF acronym : POROK9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the farnesyl diphosphate synthase gene (FDPS, 134629.0001);

Prefixed ID : #616631;

Details

Origin ID

616631;

UMLS CUI

C4225262;

Genes related to phenotype
- Farnesyl diphosphate synthase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Porokeratosis [HPO term]
ORDO concept(s)
- Disseminated superficial actinic porokeratosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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