ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Disease Ontology Browser

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Disease Ontology Browser

ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (DOID:0111649)
Alliance: disease page
Synonyms: ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome; EEM syndrome; EEMS
Alt IDs: OMIM:225280, ORDO:1897
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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