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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:brachydactyly type C
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Accession:DOID:0110970 term browser browse the term
Definition:A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: BDC;   brachydactyly, Haws type
 primary_id: MESH:C537093
 alt_id: MIM:113100
 xref: GARD:986;   ORDO:93384


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brachydactyly type C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO
ISS		 DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
DNA:missense mutations:cds:p.T201P,p.L263P (human)
DNA:mutation:cds:p.M173V(517A>G)(human)
CTD Direct Evidence: marker/mechanism
OMIM:113100
ClinVar Annotator: match by term: Brachydactyly type C		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:8589725 PMID:9024575 PMID:9288091 PMID:12121354 PMID:12357473 More... RGD:12437083, RGD:12738200, RGD:12738202 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      bone development disease 2370
        dysostosis 630
          brachydactyly 34
            brachydactyly type C 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      musculoskeletal system disease 8477
        connective tissue disease 5951
          bone disease 4402
            bone development disease 2370
              dysostosis 630
                brachydactyly 34
                  brachydactyly type C 1
paths to the root