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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 11 13,492,045 13,496,175 RGD:7242924
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 177,384,434 177,412,021 RGD:7242924
RGD:13592920
RGD:7242925
G SLC34A3 solute carrier family 34 member 3 JBrowse link 9 137,230,757 137,236,555 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16438
    Pathological Conditions, Signs and Symptoms 8474
      Signs and Symptoms 5106
        Urological Manifestations 370
          Hypercalciuria 11
            hereditary hypophosphatemic rickets with hypercalciuria 3
Path 2
Term Annotations click to browse term
  disease 16438
    Nutritional and Metabolic Diseases 4523
      disease of metabolism 4523
        acquired metabolic disease 2965
          nutrition disease 1188
            Malnutrition 180
              nutritional deficiency disease 173
                Avitaminosis 105
                  Vitamin D Deficiency 24
                    rickets 20
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 16
                          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.