OBO ID: DOID:0111650
Term Name: ectodermal dysplasia 13 Search Ontology:
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 KREMEN1 on chromosome 22q12.1. https://www.ncbi.nlm.nih.gov/pubmed/27049303
References:
Ontology: Human Disease   (DOID:0111650)
OTHER ectodermal dysplasia 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KREMEN1 Ectodermal dysplasia 13, hair/tooth type 617392
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None