OBO ID: DOID:0111649
Term Name: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Search Ontology:
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 CDH3 on chromosome 16q22.1. (2)
References:
Ontology: Human Disease   (DOID:0111649)
OTHER ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDH3 Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None