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ectodermal dysplasia 15
Summary
- Synonym
-
- ECTD15
- ectodermal dysplasia 15, hypohidrotic/hair type
- 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.
- Super Class
- autosomal recessive disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0111651
- Mondo Disease Ontology
- OMIM
