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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
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Accession:DOID:0060242 term browser browse the term
Definition:A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO)
Synonyms:exact_synonym: syndactyly type 2
 xref: GARD:5087;   NCI:C75003;   ORDO:295195;   ORDO:93403


show annotations for term's descendants           Sort by:
synpolydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: Synpolydactyly ClinVar PMID:22233338 PMID:25741868 NCBI chr36:19,901,184...19,903,837 JBrowse link
Synpolydactyly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Synpolydactyly type 1 ClinVar PMID:29514872 NCBI chr10:33,555,629...33,810,808
Ensembl chr10:33,555,628...33,810,558 		JBrowse link
G HOXD13 homeobox D13 severity ISO DNA:insertion:exon
ClinVar Annotator: match by term: Synpolydactyly type 1		 OMIM
RGD
ClinVar		 PMID:215242 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 More... RGD:12743592 NCBI chr36:19,901,184...19,903,837 JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers 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 chr10:20,498,097...20,564,776
Ensembl chr10:20,498,567...20,627,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      bone development disease 2275
        dysostosis 575
          synostosis 371
            syndactyly 142
              synpolydactyly 3
                Acropectorovertebral Dysplasia 0
                Synpolydactyly 1 2
                Synpolydactyly 2 1
                Synpolydactyly 3 0
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        connective tissue disease 5279
          bone disease 3826
            bone development disease 2275
              dysostosis 575
                synostosis 371
                  syndactyly 142
                    synpolydactyly 3
                      Acropectorovertebral Dysplasia 0
                      Synpolydactyly 1 2
                      Synpolydactyly 2 1
                      Synpolydactyly 3 0
paths to the root