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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 homeo box D13 ISS
ISO 		OMIM:186000 | OMIM:608180 | OMIM:610234
ClinVar Annotator: match by term: Synpolydactyly 		MouseDO
ClinVar		 PMID:22233338 PMID:25741868 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		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 chr 7:22,412,121...22,630,577
Ensembl chr 7:22,415,686...22,630,441 		JBrowse link
G Evx2 even-skipped homeobox 2 ISO ClinVar Annotator: match by term: Synpolydactyly type 1 ClinVar PMID:25741868 NCBI chr 3:79,965,630...79,969,700
Ensembl chr 3:79,965,630...79,969,305 		JBrowse link
G Hoxd13 homeo box D13 severity ISO DNA:duplication:CDS
DNA:missense mutation:exon:p.G220A (c.659G>C) (human)
DNA:insertion:exon
DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human)
DNA:splice-site mutation:intron:c.781+1G>A (human)
DNA:missense mutation:exon:p.I314L (940A>C) (human)
DNA:missense mutation:exon:p.R298Q (c.893G>A) (human)
DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Synpolydactyly type 1 		CTD
OMIM
ClinVar
RGD		 PMID:215242 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 More... RGD:1599534, RGD:11098288, RGD:12738375, RGD:12738377, RGD:11098032, RGD:11098055, RGD:12738399, RGD:11098998, RGD:12743592, RGD:12743595 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		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: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      bone development disease 1148
        dysostosis 301
          synostosis 197
            syndactyly 68
              synpolydactyly 4
                Acropectorovertebral Dysplasia 0
                Synpolydactyly 1 3
                Synpolydactyly 2 1
                Synpolydactyly 3 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          bone disease 2876
            bone development disease 1148
              dysostosis 301
                synostosis 197
                  syndactyly 68
                    synpolydactyly 4
                      Acropectorovertebral Dysplasia 0
                      Synpolydactyly 1 3
                      Synpolydactyly 2 1
                      Synpolydactyly 3 0
paths to the root