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RGD uses the Human Disease Ontology (DO, 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: Syndactyly type 8 OMIM
PMID:23709756 PMID:24878828 NCBI chr  X:70,816,658...70,827,270
Ensembl chr  X:70,817,433...70,878,717
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      chromosomal duplication syndrome 1048
        syndactyly 74
          syndactyly type 8 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Skin and Connective Tissue Diseases 6745
        connective tissue disease 5121
          bone disease 3801
            bone development disease 1876
              dysostosis 440
                synostosis 288
                  syndactyly 74
                    syndactyly type 8 1
paths to the root