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:SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
go back to main search page
Accession:DOID:9001915 term browser browse the term
Synonyms:exact_synonym: SNSK
 primary_id: OMIM:616255;   RDO:9001548
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities ClinVar
OMIM
PMID:15146390 PMID:16384845 PMID:24001744 PMID:24471569 PMID:25741868 PMID:27994189 PMID:30311386 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      endocrine system disease 5009
        Dwarfism 496
          SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 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
              Dwarfism 496
                SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1
paths to the root