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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked dominant hypophosphatemic rickets
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Accession:DOID:0050445 term browser browse the term
Definition:A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)
Synonyms:exact_synonym: FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS;   HPDR;   HYP;   Hereditary Vitamin D Resistant Rickets;   Hypocalcemic Vitamin D Resistant Rickets;   Hypophosphatemia, Vitamin D-Resistant Rickets;   Hypophosphatemic Vitamin D Resistant Rickets;   Vitamin D Resistant Rickets, X Linked;   X-linked hypophosphatemia;   X-linked hypophosphatemic rickets;   XLH;   XLHR
 alt_id: DOID:9003750;   OMIM:307800;   RDO:0007605;   RDO:9000070
 xref: NCI:C123265;   NCI:C85234
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X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:7207229
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11560488
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:7240710
RGD:8554872
RGD:11556246
RGD:11556247
RGD:11556248
RGD:7207229
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            X-linked monogenic disease 847
              X-linked dominant disease 75
                X-linked dominant hypophosphatemic rickets 4
Path 2
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2700
          nutrition disease 845
            Malnutrition 176
              nutritional deficiency disease 169
                Avitaminosis 105
                  Vitamin D Deficiency 21
                    rickets 17
                      Hypophosphatemic Rickets 13
                        Familial Hypophosphatemic Rickets 13
                          X-linked dominant hypophosphatemic rickets 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.