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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:fibular hypoplasia and complex brachydactyly
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Accession:DOID:0050790 term browser browse the term
Definition:A bone development disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. (DO)
Synonyms:exact_synonym: Du Pan syndrome
 primary_id: MESH:C537931
 alt_id: OMIM:228900
 xref: ORDO:2639
For additional species annotation, visit the Alliance of Genome Resources.


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fibular hypoplasia and complex brachydactyly 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:228900
DNA:missense mutation:cds:T1322C (p.L441P)(human)
ClinVar Annotator: match by term: Fibular hypoplasia and complex brachydactyly
OMIM
ClinVar
PMID:12121354 PMID:16014698 PMID:16127465 PMID:16222676 PMID:17384641 PMID:18629880 PMID:25741868 PMID:28492532, PMID:12121354 RGD:12437084 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 16085
    Developmental Diseases 9586
      bone development disease 1344
        dysostosis 342
          brachydactyly 36
            fibular hypoplasia and complex brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                brachydactyly 36
                  fibular hypoplasia and complex brachydactyly 1
paths to the root