ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

Summary

DOID:0111649 - ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

Disease Ontology 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.

Synonyms: EEM syndrome, EEMS, ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cdh3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), ectodermal dysplasia (is_a)