Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111651 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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