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Metadata
ID DOID:0111651
Name ectodermal dysplasia 15
Definition An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in CST6 on chromosome 11q13.1.
https://www.ncbi.nlm.nih.gov/pubmed/30425301
Xrefs

OMIM:618535

Synonyms

ECTD15 [EXACT]

ectodermal dysplasia 15, hypohidrotic/hair type [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal recessive disease

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