Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency
| Disease Aliases (10) | Dsp-related ectodermal dysplasia/skin fragility syndrome Edsfs Ectodermal dysplasia/skin fragility syndrome Ectodermal dysplasia - skin fragility syndrome Ectodermal dysplasia skin fragility syndrome Ectodermal dysplasia- skin fragility syndrome Ectodermal dysplasia-skin fragility syndrome Epidermolysis bullosa simplex due to plakophilin deficiency Mcgrath syndrome Pkp1-related ectodermal dysplasia/skin fragility syndrome |
Associated Genes (1) NCBI-RefSeq: PKP1 (Plakophilin 1) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Epidermolysis bullosa simplex due to plakophilin deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |