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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:osteomalacia
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Accession:DOID:10573 term browser browse the term
Definition:Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis.
Synonyms:exact_synonym: adult rickets
 primary_id: MESH:D010018
 xref: GARD:7285;   ICD9CM:268.2;   NCI:C26838
For additional species annotation, visit the Alliance of Genome Resources.


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osteomalacia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chr14:6,782,011...6,793,561
Ensembl chr14:6,782,012...6,793,558
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        Metabolic Bone Diseases 375
          rickets 17
            osteomalacia 2
              Sclerosing Osteomalacia with Cerebral Calcification 0
              axial osteomalacia 0
Path 2
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          nutrition disease 918
            Malnutrition 197
              nutritional deficiency disease 189
                Avitaminosis 109
                  Vitamin D Deficiency 21
                    rickets 17
                      osteomalacia 2
                        Sclerosing Osteomalacia with Cerebral Calcification 0
                        axial osteomalacia 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.