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

• GARD:2078
• OMIM:225280
• ORDO:1897

Ontology

Human Disease   ( DOID:0111649 )