plakophilin 1 - CISMeF

Preferred Label : plakophilin 1;

Approved symbol HGNC : PKP1;

Name synonyms HGNC : ectodermal dysplasia/skin fragility syndrome;

Alias symbols HGNC : B6P;

Chromosome HGNC : 1q32.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000081277;

Details

Origin ID

HGNC:9023;

UMLS CUI

C1418612;

Automatic exact mappings (from CISMeF team)
- Ectodermal Dysplasia-Skin Fragility Syndrome [MeSH Supplementary Concept]
- Ectodermal Dysplasia-Skin Fragility Syndrome [MeSH concept]
- Ectodermal dysplasia – skin fragility syndrome [ICD-11 More detail]
- Ectodermal dysplasia/skin fragility syndrome [OMIM Phenotype]
- Plakophilin 1 [OMIM gene]
- plakophilin 1 [ORDO Gene]
- plakophilin 1 [MeSH concept]
- plakophilins [MeSH Descriptor]
OMIM gene
- Plakophilin 1 [OMIM gene]
Orphanet gene
- plakophilin 1 [ORDO Gene]
See also inter- (CISMeF)
- Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Plakophilin 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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