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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:syndactyly type 5
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Accession:DOID:0111819 term browser browse the term
Definition:A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in HOXD13 on chromosome 2q31.1. (DO)
Synonyms:exact_synonym: SDTY5;   Syndactyly, Type V;   syndactyly with associated metacarpal and metatarsal fusion;   syndactyly with metacarpal and metatarsal fusion
 primary_id: MESH:C538155
 alt_id: DOID:9004216;   OMIM:186300
 xref: GARD:5089;   ORDO:93406
For additional species annotation, visit the Alliance of Genome Resources.


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syndactyly type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Syndactyly, type V ClinVar NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by OMIM:186300
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.Q317R (c.950A>G)
OMIM
ClinVar
CTD
PMID:16222680, PMID:17236141, PMID:24239177, PMID:17236141 RGD:12738470 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      chromosomal duplication syndrome 740
        syndactyly 58
          syndactyly type 5 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                synostosis 229
                  syndactyly 58
                    syndactyly type 5 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.