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ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Summary
- Synonym
-
- EEM syndrome
- EEMS
- ectodermal dysplasia-ectrodactyly-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.
- Super Class
- autosomal recessive disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0111649
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
