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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:frontonasal dysplasia 1
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Accession:DOID:0081045 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FND1
 primary_id: MIM:136760
 alt_id: DOID:9003445


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frontonasal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO OMIM NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11175
      frontonasal dysplasia 6
        frontonasal dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      musculoskeletal system disease 8478
        connective tissue disease 5948
          bone disease 4403
            bone development disease 2368
              dysostosis 628
                frontonasal dysplasia 1 1
paths to the root