Term Name: | ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
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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 ) |