Disease Term Disease ID Gene Symbol References
Ectodermal Dysplasia C0013575 RHOA 31570889
CDH3
EDA
EVC
HOXC13
ITGB4 18348258
KRT14
ODC1 30475435
PKP1
NECTIN1
IKBKG
TP63
BMS1
GJB6
EDAR 16435307
NLRP1
MBTPS2
IFT122
SMARCAD1
WDR35
WDR19
DHX40
WNT10A
CLPB
NECTIN4
ORAI1
IFT43
TWIST2
EDARADD
EVC2
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT C3888065 EDAR 16435307, 18231121, 22032522, 10431241
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE C3887494 EDAR 10431241, 27657131, 19438931, 24641098, 20979233, 23401279, 16029325, 17125505, 18231121, 22032522, 16435307, 24884697, 26336973, 15373768, 27305980
EDARADD
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT C3541517 EDAR 10431241, 23401279, 24641098, 20979233
EDARADD 17354266, 20222921, 25206167, 20979233
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT C4310894 EDARADD
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE C3539920 EDARADD 20222921, 11780064, 25206167, 17354266
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE C4310616 KDF1 27838789
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE C4479322 KREMEN1 27049303
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS C4749123 TSPEAR-AS1
TSPEAR
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS C4748560 TSPEAR 27736875
Ectodermal Dysplasia 3, Anhidrotic C1720965 EDAR
EDARADD
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE C3554117 KRT74 24714551
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE C3554127 HOXC13 28297138, 23063621
HOXC13-AS
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema C1845919 IKBKG 16818673, 11047757, 11242109
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant C2677481 NFKBIA 14523047, 18412279, 23239958
Ectodermal dysplasia, ectrodactyly, and macular dystrophy C1857041 CDH3 12445216, 15805154, 22140374
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive C0406702 EDAR
WNT10A
EDARADD
Ectodermal dysplasia, hypohidrotic, with immune deficiency C1846006 NFKBIA 18412279
IKBKG 18851874, 16950813, 15833888, 16532398, 16818673, 29077208, 17072331, 21622647, 26117626, 24682681
Ectodermal Dysplasia, Pure Hair-Nail Type C1865951 HOXC13 23063621, 24239177
KRT85 16525032, 19865094
KRT74 24714551
Ectodermal dysplasia-skin fragility syndrome 158668 PKP1
Ectodermal dysplasia/ skin fragility syndrome C1858302 DSP
PKP1 24073657, 19945625, 22309335
Pure hair and nail ectodermal dysplasia 69084 KRT85
KRT74
HOXC13