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Metadata
ID DOID:0111658
Name ectodermal dysplasia 4
Definition A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13.
https://www.ncbi.nlm.nih.gov/pubmed/16525032
Xrefs

OMIM:602032

Synonyms

ECTD4 [EXACT]

ectodermal dysplasia 4, hair/nail type [EXACT]

Parent Relationships

is_a pure hair and nail ectodermal dysplasia

is_a autosomal recessive disease

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