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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: SDTY2;   syndactyly type 2;   syndactyly type II
 xref: GARD:5087;   NCI:C75003;   ORDO:295195;   ORDO:93403
For additional species annotation, visit the Alliance of Genome Resources.


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 Chst11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Synpolydactyly ClinVar PMID:29514872 NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716
JBrowse link
G Fbln1 fibulin 1 ISS OMIM:186000 | OMIM:608180 | OMIM:610234 MouseDO NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
G Hoxd13 homeo box D13 ISS OMIM:186000 | OMIM:608180 | OMIM:610234 MouseDO NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
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 1 ClinVar PMID:29514872 NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716
JBrowse link
G Hoxd13 homeo box D13 severity ISO DNA:duplication:CDS
ClinVar Annotator: match by OMIM:186000
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 1
ClinVar
CTD
OMIM
PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 PMID:9758628 PMID:12414828 PMID:12900906 PMID:14698619 PMID:15333588 PMID:15917204 PMID:16222680 PMID:18399101 PMID:19060004 PMID:21814222 PMID:22373878 PMID:22374128 PMID:23948678 PMID:24055421 PMID:24239177 PMID:24789103 PMID:25741868, PMID:8817328, PMID:23948678, PMID:15952114, PMID:11543619, PMID:21814222, PMID:24055421, PMID:12620993, PMID:22374128, PMID:9207113, PMID:27254532 RGD:1599534, RGD:11098288, RGD:12738375, RGD:12738377, RGD:11098032, RGD:11098055, RGD:12738399, RGD:11098998, RGD:12743592, RGD:12743595 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
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 2 OMIM
ClinVar
PMID:25741868 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      chromosomal duplication syndrome 748
        syndactyly 60
          synpolydactyly 3
            Synpolydactyly 1 2
            Synpolydactyly 2 1
            Synpolydactyly 3 0
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3041
            bone development disease 1371
              dysostosis 381
                synostosis 229
                  syndactyly 60
                    synpolydactyly 3
                      Synpolydactyly 1 2
                      Synpolydactyly 2 1
                      Synpolydactyly 3 0
paths to the root