Epidermolysis bullosa simplex

Disease Term Disease ID Gene Symbol References
Epidermolysis Bullosa Simplex C0079298 DST 20164846, 25059916
ITGB4
KRT5 20199538, 16465624
KRT14 20151404
EXPH5 27730671, 26719633
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) C1832926 DST
KRT5
KRT14
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 C3809470 DST 22113475, 25059916, 20164846
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE C3554367 ITGA3 26719633, 23114595
EXPH5 27730671, 23176819, 26719633
Epidermolysis bullosa simplex, Ogna type C0432317 ITGB4
PLEC 11851880, 15654962, 8830774, 19945614, 10652002, 23289980
Epidermolysis bullosa simplex due to BP230 deficiency 412181 DST
Epidermolysis bullosa simplex due to exophilin 5 deficiency 412189 EXPH5
Autosomal recessive generalized epidermolysis bullosa simplex 89838 KRT14
Autosomal dominant generalized epidermolysis bullosa simplex, severe form 79396 KRT14
KRT5
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form 79399 KRT14
KRT5
Weber-Cockayne Syndrome C0080333 GALK1 10484780, 12485428
ITGB4 10484780, 12485428
KRT5 7688477, 12707098, 12655565, 21623745, 16786515, 15140024, 15347343, 9804357, 16882168, 14723728, 10782015, 7520042, 8595431, 8807337, 7506097
KRT14 7506097, 12655565, 10733662, 14987259, 7561171, 12603865, 16786515, 16882168, 7506606, 9284105, 9989794, 9804357, 12707098, 16098032
Localized epidermolysis bullosa simplex 79400 KRT14
KRT5