Search Ontology:
Human Disease

ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

Term ID
DOID:0111649
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. (2)
References
Ontology
Human Disease   ( DOID:0111649 )
Relationships
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Genes Involved
Zebrafish Models