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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 the HOXD13 gene 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: MIM:186300
 xref: GARD:5089;   ORDO:93406


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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 5 ClinVar NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.Q317R (c.950A>G)
ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V		 OMIM
CTD
ClinVar
RGD		 PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 More... RGD:12738470 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      bone development disease 2370
        dysostosis 630
          synostosis 396
            syndactyly 150
              syndactyly type 5 2
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      musculoskeletal system disease 8477
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              dysostosis 630
                synostosis 396
                  syndactyly 150
                    syndactyly type 5 2
paths to the root