Search Ontology:
Human Disease
frontonasal dysplasia 1
- Term ID
- DOID:0081045
- Synonyms
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- Frontorhiny
- Definition
- A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. https://pubmed.ncbi.nlm.nih.gov/19409524/
- References
- Ontology
- Human Disease ( DOID:0081045 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models