Search Ontology:
Human Disease

ectodermal dysplasia 13

Term ID
DOID:0111650
Synonyms
  • ECTD13
  • ectodermal dysplasia 13, hair/tooth type
Definition
An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. https://www.ncbi.nlm.nih.gov/pubmed/27049303
References
Ontology
Human Disease   ( DOID:0111650 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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