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ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperphosphatemic Familial Tumoral Calcinosis 3
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Accession:DOID:9005366 term browser browse the term
Definition:A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate.
Synonyms:exact_synonym: HFTC3
 primary_id: OMIM:617994
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Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15036
    Nutritional and Metabolic Diseases 4255
      disease of metabolism 4255
        phosphorus metabolism disease 183
          hyperphosphatemia 118
            hyperphosphatemic familial tumoral calcinosis 116
              Hyperphosphatemic Familial Tumoral Calcinosis 3 1
Path 2
Term Annotations click to browse term
  disease 15036
    Nutritional and Metabolic Diseases 4255
      disease of metabolism 4255
        acquired metabolic disease 2678
          mineral metabolism disease 410
            phosphorus metabolism disease 183
              hyperphosphatemia 118
                hyperphosphatemic familial tumoral calcinosis 116
                  Hyperphosphatemic Familial Tumoral Calcinosis 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.