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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: MIM:309630
 xref: GARD:3559;   ORDO:2498


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23709756 PMID:24878828 NCBI chr  X:70,816,658...70,828,028
Ensembl chr  X:70,817,433...70,878,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        Hand Deformities 205
          Congenital Hand Deformities 202
            syndactyly type 8 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              dysostosis 632
                synostosis 397
                  syndactyly 151
                    syndactyly type 8 1
paths to the root