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Metadata
ID DOID:0111652
Name ectodermal dysplasia 12
Definition A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11.
https://www.ncbi.nlm.nih.gov/pubmed/27838789
Xrefs

OMIM:617337

Synonyms

ECTD12 [EXACT]

ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type [EXACT]

Parent Relationships

is_a hypohidrotic ectodermal dysplasia

is_a autosomal dominant disease

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