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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:Synpolydactyly 2
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Accession:DOID:9001994 term browser browse the term
Synonyms:exact_synonym: SPD2;   SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
 primary_id: MESH:C564278
 alt_id: OMIM:608180;   RDO:0013300
For additional species annotation, visit the Alliance of Genome Resources.



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Synpolydactyly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      Congenital Foot Deformities 88
        Synpolydactyly 2 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Skin and Connective Tissue Diseases 6613
        connective tissue disease 4971
          bone disease 3636
            bone development disease 1810
              dysostosis 441
                synostosis 289
                  syndactyly 73
                    synpolydactyly 3
                      Synpolydactyly 2 1
paths to the root