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Metadata
ID DOID:0111649
Name ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/15805154, https://www.ncbi.nlm.nih.gov/pubmed/6302256
Xrefs

GARD:2078

OMIM:225280

ORDO:1897

Subsets

DO_rare_slim

Synonyms

ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome [EXACT]

EEM syndrome [EXACT]

EEMS [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal recessive disease

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