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| Term | ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | ID (Ontology) | DOID:0111649 (Human Disease) |
| 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. | ||
| Also Known As | "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" ; "EEM syndrome" ; "EEMS" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ syndrome | |__ectodermal dysplasia_________| ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
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autosomal recessive disease ectodermal dysplasia |
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GARD:2078 MIM:225280 ORDO:1897 |
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