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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:Distal Symphalangism
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Accession:DOID:9001951 term browser browse the term
Synonyms:primary_id: MESH:C566099
 alt_id: MIM:185700
 xref: HP:0100263;   MONDO:0008509;   ORDO:3248

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
multiple synostoses syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chrNW_004955497:2,199,424...2,232,088
Ensembl chrNW_004955497:2,199,409...2,235,893 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chrNW_004955422:25,992,081...25,997,122
Ensembl chrNW_004955422:25,992,081...25,997,122 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome OMIM
ClinVar		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    physical disorder 4832
      Congenital Foot Deformities 182
        Distal Symphalangism 3
          multiple synostoses syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11872
        Congenital Abnormalities 7228
          Musculoskeletal Abnormalities 3250
            Congenital Limb Deformities 1018
              Lower Extremity Deformities, Congenital 190
                Congenital Foot Deformities 182
                  Distal Symphalangism 3
                    multiple synostoses syndrome 1 3
paths to the root