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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 1
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Accession:DOID:9001915 term browser browse the term
Synonyms:exact_synonym: SNSK;   SNSK1
 xref: MIM:616255;   MONDO:0014551


show annotations for term's descendants           Sort by:
Short Stature with Nonspecific Skeletal Abnormalities 1 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 1 OMIM
ClinVar		 PMID:15146390 PMID:15572448 PMID:16384845 PMID:22691581 PMID:24001744 More... NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1 ClinVar PMID:16384845 PMID:22691581 PMID:25741868 PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      endocrine system disease 7033
        Dwarfism 878
          Short Stature with Nonspecific Skeletal Abnormalities 1 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              Dwarfism 878
                Short Stature with Nonspecific Skeletal Abnormalities 1 2
paths to the root