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 the CDH3 gene on chromosome 16q22.1. (2)
References:
Ontology: Human Disease   ( DOID:0111649 )
Relationships
is a type of:
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
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.