Hyperpigmentation, familial progressive, 1

Preferred Label : Hyperpigmentation, familial progressive, 1;

Symbol : FPH1;

CISMeF acronym : FPH; FPH1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : FPH;

Description : Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by Zhang et al., 2006). - Genetic Heterogeneity of Familial Progressive Hyperpigmentation Familial progressive hyperpigmentation-1 (FPH1) has been mapped to chromosome 19pter-p13.1. Also see familial progressive hyperpigmentation-2 (FPH2; 145250), which is caused by mutation in the;

Prefixed ID : %614233;

Details

Origin ID

614233;

UMLS CUI

C2681535;

Automatic exact mappings (from CISMeF team)
- Feline Progressive Histiocytosis [NCIt concept]
- HPP1 Gene [NCIt concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperpigmentation of the skin [HPO term]
NCIt concept(s)
- HPP1 Gene [NCIt concept]
ORDO concept(s)
- Familial progressive hyperpigmentation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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