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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM
ClinVar
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9745
      frontonasal dysplasia 6
        frontonasal dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        Congenital Abnormalities 6810
          Musculoskeletal Abnormalities 2818
            Craniofacial Abnormalities 2387
              Maxillofacial Abnormalities 289
                Jaw Abnormalities 242
                  orofacial cleft 139
                    cleft palate 108
                      frontonasal dysplasia 3 1
paths to the root