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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,
Echinobase Genes :
MIM:225280 - eem syndrome |
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)