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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:An acromesomelic dysplasia that is characterised by severe reduction or absence of the fibula and complex brachydactyly. (DO)
Synonyms:exact_synonym: AMD2B;   Du Pan syndrome;   acromesomelic dysplasia 2B
 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 DNA:missense mutation:cds:T1322C (p.L441P)(human)
ClinVar Annotator: match by term: Acromesomelic dysplasia 2B
OMIM
ClinVar
RGD
PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 More... RGD:12437084 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      bone development disease 1875
        osteochondrodysplasia 614
          acromesomelic dysplasia 5
            fibular hypoplasia and complex brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              dysostosis 440
                brachydactyly 33
                  fibular hypoplasia and complex brachydactyly 1
paths to the root