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Metadata
ID DOID:0081045
Name frontonasal dysplasia 1
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/
Xrefs

MIM:136760

Synonyms

Frontorhiny [EXACT]

Parent Relationships

is_a frontonasal dysplasia

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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