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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 8
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Accession:DOID:0111813 term browser browse the term
Definition:A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: MF4;   Metacarpal 4 5 Fusion;   fusion of metacarpals 4 and 5
 primary_id: MESH:C564100
 alt_id: OMIM:309630
 xref: GARD:3559;   ORDO:2498
For additional species annotation, visit the Alliance of Genome Resources.


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syndactyly type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Metacarpal 4-5 fusion OMIM
ClinVar
PMID:23709756 PMID:24878828 NCBI chr  X:76,786,728...76,796,311
Ensembl chr  X:76,786,466...76,797,069
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      chromosomal duplication syndrome 741
        syndactyly 58
          syndactyly type 8 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 5478
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  syndactyly 58
                    syndactyly type 8 1
paths to the root