Search Ontology:
Human Disease
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
- Term ID
- DOID:0111649
- Synonyms
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- 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
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- GARD:2078
- MIM:225280
- ORDO:1897
- Ontology
- Human Disease ( DOID:0111649 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models