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Metadata
ID DOID:0111654
Name ectodermal dysplasia 11B
Definition A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.
https://www.ncbi.nlm.nih.gov/pubmed/11780064
Xrefs

OMIM:614941

Synonyms

ECTD11B [EXACT]

ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [EXACT]

Parent Relationships

is_a hypohidrotic ectodermal dysplasia

is_a autosomal recessive disease

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