OBO ID: DOID:0081045
Term Name: frontonasal dysplasia 1 Search Ontology:
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 )
OTHER frontonasal dysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALX3 Frontonasal dysplasia 1 136760
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)