Search Ontology:
Human Disease

ectodermal dysplasia 14

Term ID
DOID:0111662
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 the TSPEAR gene on chromosome 21q22.3. https://www.ncbi.nlm.nih.gov/pubmed/27736875
References
Ontology
Human Disease   ( DOID:0111662 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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