OBO ID: DOID:0111662
Term Name: ectodermal dysplasia 14 Search Ontology:
Synonyms:
  • ECTN14
  • ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Definition: An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in TSPEAR on chromosome 21q22.3. https://www.ncbi.nlm.nih.gov/pubmed/27736875
References:
Ontology: Human Disease   (DOID:0111662)
OTHER ectodermal dysplasia 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 618180
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None