Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:idiopathic juvenile osteoporosis
go back to main search page
Accession:DOID:12559 term browser browse the term
Definition:An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. (DO)
Synonyms:exact_synonym: childhood-onset primary osteoporosis;   idiopathic osteoporosis;   juvenile osteoporosis;   juvenile primary osteoporosis
 primary_id: MESH:C537700
 alt_id: OMIM:259750;   RDO:0003582
 xref: ICD9CM:733.02
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
idiopathic juvenile osteoporosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Diseases of the Aged 1245
      osteoporosis 325
        idiopathic juvenile osteoporosis 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      Skin and Connective Tissue Diseases 4972
        connective tissue disease 3641
          bone disease 2998
            bone remodeling disease 431
              bone resorption disease 350
                osteoporosis 325
                  idiopathic juvenile osteoporosis 1
paths to the root