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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: MIM:608180


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      polydactyly 380
        Synpolydactyly 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              dysostosis 632
                synostosis 397
                  syndactyly 151
                    synpolydactyly 4
                      Synpolydactyly 2 1
paths to the root