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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 2
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Accession:DOID:0081046 term browser browse the term
Definition:A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: FND2
 alt_id: DOID:9007891
 xref: MIM:613451;   MONDO:0013268


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frontonasal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 ClinVar
OMIM		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      frontonasal dysplasia 6
        frontonasal dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Skin and Connective Tissue Diseases 7795
        connective tissue disease 5931
          bone disease 4372
            bone development disease 2347
              dysostosis 641
                synostosis 403
                  craniosynostosis 338
                    frontonasal dysplasia 2 1
paths to the root