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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:SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
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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.



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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 More... NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      endocrine system disease 5841
        Dwarfism 503
          SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      musculoskeletal system disease 6466
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              Dwarfism 503
                SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1
paths to the root