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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:split hand-foot malformation 3
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Accession:DOID:0090025 term browser browse the term
Definition:A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. (DO)
Synonyms:exact_synonym: SHFM3;   SHSF3;   chromosome 10q24 duplication syndrome;   distal limb deficiencies with micrognathia
 primary_id: MESH:C565437
 alt_id: OMIM:246560
For additional species annotation, visit the Alliance of Genome Resources.



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split hand-foot malformation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 3 ClinVar PMID:28492532 NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      chromosomal duplication syndrome 756
        split hand-foot malformation 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Craniofacial Abnormalities 1964
              Maxillofacial Abnormalities 244
                Jaw Abnormalities 232
                  Micrognathism 50
                    split hand-foot malformation 3 1
paths to the root