Search Ontology:
Human Disease
ectodermal dysplasia 14
- Term ID
- DOID:0111662
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models