DISEASES

Disease-gene associations mined from literature

Human genes for ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome [DOID:0111649]

An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1.

Synonyms:  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome,  and macular dystrophy syndrome ectodermal dysplasia, ectrodactyly,  DOID:0111649,  ectodermal dysplasia ectrodactyly and macular dystrophy syndrome,  ectodermal dysplasia, ectrodactyly, and macular dystrophy disease ...