Dystrophic epidermolysis bullosa

Disease Term Disease ID Gene Symbol References
Localized dystrophic epidermolysis bullosa, acral form 158673 COL7A1
Autosomal dominant generalized dystrophic epidermolysis bullosa 231568 COL7A1
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form 89842 COL7A1
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form 79408 COL7A1
MMP1
Self-improving dystrophic epidermolysis bullosa 79411 COL7A1
Localized dystrophic epidermolysis bullosa, pretibial form 79410 COL7A1
Dystrophic epidermolysis bullosa inversa 79409 COL7A1
Dystrophic epidermolysis bullosa pruriginosa 89843 COL7A1
Hallopeau-Siemens Disease C0079474 COL7A1 9215684, 8513326, 10084325, 9804332, 22266148, 12485454, 8592061, 23616197, 17495952, 15888141, 10944088, 11167698, 18558993, 11781296, 9444387, 9326325, 8900535, 9668111, 12787275, 9740253, 20598510, 8757758, 10620140, 8618018, 16971478
MMP1
Transient bullous dermolysis of the newborn C1851573 COL7A1 23616197, 9856844, 11781296