| CUI | Disease | Vocabulary | Name in Vocabulary | Code |
|---|---|---|---|---|
| C1858302 | Ectodermal dysplasia/ skin fragility syndrome | MONDO | epidermolysis bullosa simplex due to plakophilin deficiency | 0011472 |
| C1858302 | Ectodermal dysplasia/ skin fragility syndrome | MSH | Ectodermal Dysplasia-Skin Fragility Syndrome | C536183 |
| C1858302 | Ectodermal dysplasia/ skin fragility syndrome | OMIM | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | 604536 |
| C1858302 | Ectodermal dysplasia/ skin fragility syndrome | ORDO | Epidermolysis bullosa simplex due to plakophilin deficiency | 158668 |