Metadata | |
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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 the CST6 gene on chromosome 11q13.1. https://www.ncbi.nlm.nih.gov/pubmed/30425301 |
Xrefs | |
Synonyms |
ECTD15 [EXACT] ectodermal dysplasia 15, hypohidrotic/hair type [EXACT] |
Parent Relationships |
is_a ectodermal dysplasia |