Search Ontology:
Human Disease

frontonasal dysplasia 1

Term ID
DOID:0081045
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models