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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 the FGF16 gene 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



show annotations for term's descendants           Sort by:
syndactyly type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF16 fibroblast growth factor 16 IAGP
EXP
ClinVar Annotator: match by term: Metacarpal 4-5 fusion
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:23709756 PMID:24878828 NCBI chr  X:77,447,389...77,457,278
Ensembl chr  X:77,447,389...77,457,278
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      musculoskeletal system disease 11573
        Hand Deformities 240
          Congenital Hand Deformities 237
            syndactyly type 8 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      musculoskeletal system disease 11573
        connective tissue disease 7403
          bone disease 5561
            bone development disease 3241
              dysostosis 849
                synostosis 551
                  syndactyly 182
                    syndactyly type 8 1
paths to the root