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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary hypophosphatemic rickets with hypercalciuria
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Accession:DOID:0050947 term browser browse the term
Definition:A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO)
Synonyms:exact_synonym: HHRH;   Hypercalciuric Rickets;   hypophosphatemic rickets with hypercalciuria
 primary_id: MESH:C562793
 alt_id: OMIM:241530;   RDO:0012360
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hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242924
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242924
RGD:13592920
RGD:7242925
G Slc34a3 solute carrier family 34 member 3 JBrowse link 3 2,448,391 2,454,019 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Pathological Conditions, Signs and Symptoms 8034
      Signs and Symptoms 4691
        Urological Manifestations 556
          Hypercalciuria 11
            hereditary hypophosphatemic rickets with hypercalciuria 3
Path 2
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2701
          nutrition disease 845
            Malnutrition 176
              nutritional deficiency disease 169
                Avitaminosis 105
                  Vitamin D Deficiency 21
                    rickets 17
                      Hypophosphatemic Rickets 13
                        Familial Hypophosphatemic Rickets 13
                          hereditary hypophosphatemic rickets with hypercalciuria 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.