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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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        dysostosis 342
          brachydactyly 37
            fibular hypoplasia and complex brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                brachydactyly 37
                  fibular hypoplasia and complex brachydactyly 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.