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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, DAUBER-ARGENTE TYPE
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Accession:DOID:9005722 term browser browse the term
Definition:This disease is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 due to impaired proteolysis of IGFBP3 and IGFBP5, resulting in reduced free IGF1.
Synonyms:exact_synonym: SSDA
 primary_id: OMIM:619489



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SHORT STATURE, DAUBER-ARGENTE TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAPPA2 pappalysin 2 IAGP ClinVar Annotator: match by term: SHORT STATURE, DAUBER-ARGENTE TYPE ClinVar
OMIM
PMID:25741868 PMID:26902202 PMID:34272725 NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      endocrine system disease 7642
        Dwarfism 1100
          SHORT STATURE, DAUBER-ARGENTE TYPE 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      Skin and Connective Tissue Diseases 9642
        connective tissue disease 7403
          bone disease 5561
            bone development disease 3241
              Dwarfism 1100
                SHORT STATURE, DAUBER-ARGENTE TYPE 1
paths to the root