Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Achondroplastic Dwarfism
go back to main search page
Accession:DOID:9008166 term browser browse the term
Synonyms:primary_id: MESH:C531599;   RDO:0000011
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Achondroplastic Dwarfism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      endocrine system disease 5000
        Dwarfism 486
          achondroplasia 11
            Achondroplastic Dwarfism 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
              Dwarfism 486
                achondroplasia 11
                  Achondroplastic Dwarfism 1
paths to the root