| Metadata | |
|---|---|
| ID | DOID:0111649 |
| Name | ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15805154, https://www.ncbi.nlm.nih.gov/pubmed/6302256 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome [EXACT] EEM syndrome [EXACT] EEMS [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |