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Metadata
ID DOID:0111656
Name ectodermal dysplasia 9
Definition A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13.
https://www.ncbi.nlm.nih.gov/pubmed/23063621
Xrefs

OMIM:614931

Synonyms

ECTD9 [EXACT]

ectodermal dysplasia 9, hair/nail type [EXACT]

Parent Relationships

is_a pure hair and nail ectodermal dysplasia

is_a autosomal recessive disease

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