Keratosis palmoplantaris striata II

Preferred Label : Keratosis palmoplantaris striata II;

Symbol : PPKS2;

CISMeF acronym : KPPS2; PPKS2; SPPK2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SPPK2; Keratoderma, palmoplantar, striate form II; KPPS2; Striate palmoplantar keratoderma II;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the desmoplakin gene (DSP, 125647.0001);

Prefixed ID : #612908;

Details

Origin ID

612908;

UMLS CUI

C1852127;

Automatic exact mappings (from CISMeF team)
- DSP wt Allele [NCIt concept]
- Striate palmoplantar keratoderma [PASCAL descriptor]
- desmoplakin [ORDO Gene]
- desmoplakin [HGNC gene]
Broader ORDO disease(s)
- Striate palmoplantar keratoderma [ORDO Disease]
Currated CISMeF NLP mapping
- keratosis palmoplantaris striata II [MeSH concept]
- keratosis palmoplantaris striata II [MeSH Supplementary Concept]
Genes related to phenotype
- Desmoplakin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Palmoplantar keratoderma [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Striate palmoplantar keratoderma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- keratosis palmoplantaris striata II [MeSH Supplementary Concept]
- keratosis palmoplantaris striata II [MeSH concept]

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