Term Name: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Synonyms: ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome, EEM syndrome, EEMS
Definition: An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1.
Ontology: Human Disease [DOID:0111649]   ( DOID:0111649 )

Relationships
is a type of: autosomal recessive disease ectodermal dysplasia