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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 3
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Accession:DOID:0081047 term browser browse the term
Definition:A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: FND3
 related_synonym: OMIM:613456
 alt_id: DOID:9000358


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frontonasal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO
ISS		 OMIM:613456
ClinVar Annotator: match by term: Frontonasal dysplasia 3		 OMIM
MouseDO
ClinVar		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      frontonasal dysplasia 6
        frontonasal dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft palate 116
                      frontonasal dysplasia 3 1
paths to the root