HPP1 Gene - CISMeF

Preferred Label : HPP1 Gene;

NCIt synonyms : FPH1; Hyperpigmentation, Progressive, 1 Gene; MUH; Familial Progressive Hyperpigmentation 1 Gene; HPP; HPP1; Hyperpigmentation, Familial Progressive, 1 Gene;

CISMeF acronym : HPP1;

NCIt definition : Human HPP1 gene is located within 19pter-p13.1 and the size of this phenotypic locus is not reported. This phenotype-only gene has not been linked to a known protein product. This locus is associated with familial progressive hyperpigmentation.;

Details

Origin ID

C118954;

UMLS CUI

C3470489;

Automatic exact mappings (from CISMeF team)
- Hereditary pyropoikilocytosis (disorder) [SNOMED CT concept]
- Hyperpigmentation with or without hypopigmentation, familial progressive [OMIM Phenotype]
- Hyperpigmentation, familial progressive, 1 [OMIM Phenotype]
- Hypophosphatasia [ORDO Disease]
- N-(4'-fluorobutyrophenone)-4-(4-chlorophenyl)pyridinium [MeSH Supplementary Concept]
- Pyropoikilocytosis, hereditary [OMIM Phenotype]
- Transmembrane protein with egf-like and 2 follistatin-like domains 2 [OMIM gene]
- allopurinol [MeSH Descriptor]
- familial progressive hyperpigmentation with or without hypopigmentation [DO Concept]
- paralysis, hyperkalemic periodic [MeSH Descriptor]
- postpartum hemorrhage [MeSH Descriptor]
HGNC gene
- hyperpigmentation, progressive, 1 [HGNC gene]
OMIM relation
- Hyperpigmentation, familial progressive, 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperpigmentation, progressive, 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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