Disease Term Disease ID Gene Symbol References
X-linked hypohidrotic ectodermal dysplasia 181 EDA
EDA2R
Christ-Siemens-Touraine syndrome C0162359 EDA 18231121, 20979233, 22008666, 11416205, 27305980, 11378824, 12949972, 12932274, 8696334, 20486090, 24312213, 21357618, 9507389, 11309369, 22428923, 12225002, 11295832, 18386312, 9683615, 27657131, 18076698, 19127222, 10469321, 17970812, 9736768, 9630076, 23553579, 22032522, 24724966, 19623212, 22350046, 21457804, 20236127, 17256800, 19438931, 15663448, 23991204, 26753551, 27144394, 18666859, 26273176, 27054699, 23744313, 22875504, 24487376, 11279189, 23926003, 10951256, 11343303, 18821982, 16583127, 18510547, 19278982, 14656435, 25333067
EDAR
EDA2R 22889853
EDARADD 25206167, 20222921
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) C0265331 TRAF6
EDAR
KDF1 27838789
EDARADD