FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term frontonasal dysplasia 1 ID (Ontology) DOID:0081045 (Human Disease)
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.
Also Known As "Frontorhiny"
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 Genes
 frontonasal dysplasia 1       1
 for disease ribbon | frontonasal dysplasia 1       1
 model of | frontonasal dysplasia 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__frontonasal dysplasia________|
                                 frontonasal dysplasia 1  1 rec.
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Is a autosomal recessive disease
frontonasal dysplasia
Part of
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Synonyms
  • "Frontorhiny" EXACT
Secondary IDs
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MIM:136760