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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: OMIM:185700
For additional species annotation, visit the Alliance of Genome Resources.



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 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar
RGD
PMID:16532400 RGD:12738199 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Nog noggin ISO DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
OMIM
ClinVar
RGD
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      Congenital Foot Deformities 88
        Distal Symphalangism 3
          Multiple Synostoses Syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        Congenital Abnormalities 6706
          Musculoskeletal Abnormalities 2718
            Congenital Limb Deformities 603
              Lower Extremity Deformities, Congenital 97
                Congenital Foot Deformities 88
                  Distal Symphalangism 3
                    Multiple Synostoses Syndrome 1 3
paths to the root