ectodermal dysplasia 15

Term ID

DOID:0111651

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/30425301

References

• OMIM:618535

Ontology

Human Disease   ( DOID:0111651 )