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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 21 36,417,062 36,419,967 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 4 35,961,394 35,973,733 RGD:9068941
G SLC34A3 solute carrier family 34 member 3 JBrowse link 9 48,437,893 48,444,103 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 12008
    Pathological Conditions, Signs and Symptoms 6925
      Signs and Symptoms 4049
        Urological Manifestations 349
          Hypercalciuria 11
            hereditary hypophosphatemic rickets with hypercalciuria 3
Path 2
Term Annotations click to browse term
  disease 12008
    Nutritional and Metabolic Diseases 3338
      disease of metabolism 3338
        acquired metabolic disease 2031
          nutrition disease 651
            Malnutrition 165
              nutritional deficiency disease 158
                Avitaminosis 98
                  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.