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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: OMIM:113100
 xref: GARD:986;   ORDO:93384
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:113100
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)
OMIM
ClinVar
PMID:9024575 PMID:9288091 PMID:12357473 PMID:12567410 PMID:13953230 PMID:14735582 PMID:18283415, PMID:23812741, PMID:25092592, PMID:14735582 RGD:12437083, RGD:12738200, RGD:12738202 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      bone development disease 1307
        dysostosis 337
          brachydactyly 31
            brachydactyly type C 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              dysostosis 337
                brachydactyly 31
                  brachydactyly type C 1
paths to the root