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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 OMIM
ClinVar
PMID:28492532 NCBI chr 1:265,318,526...265,420,503
Ensembl chr 1:265,318,526...265,420,503
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      chromosomal duplication syndrome 741
        split hand-foot malformation 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Craniofacial Abnormalities 1475
              Maxillofacial Abnormalities 248
                Jaw Abnormalities 236
                  Micrognathism 48
                    split hand-foot malformation 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.