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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 characterized 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: MIM:228900
 xref: ORDO:2639


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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 Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Du pan syndrome ClinVar PMID:228900 PMID:258150 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS		 DNA:missense mutation:cds:T1322C (p.L441P)(human)
CTD Direct Evidence: marker/mechanism
OMIM:228900
ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 More... RGD:12437084 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 19050
    Developmental Disease 14522
      bone development disease 2370
        Dwarfism 865
          acromesomelic dysplasia 90
            fibular hypoplasia and complex brachydactyly 2
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      musculoskeletal system disease 8479
        connective tissue disease 5951
          bone disease 4402
            bone development disease 2370
              dysostosis 630
                brachydactyly 34
                  fibular hypoplasia and complex brachydactyly 2
paths to the root