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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: OMIM: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 chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V OMIM
ClinVar		 PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 More... NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      bone development disease 2149
        dysostosis 534
          synostosis 349
            syndactyly 136
              syndactyly type 5 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7250
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2149
              dysostosis 534
                synostosis 349
                  syndactyly 136
                    syndactyly type 5 2
paths to the root