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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypophosphatemic Rickets
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Accession:DOID:9001458 term browser browse the term
Definition:A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.
Synonyms:exact_synonym: Acquired Vitamin D Resistant Rickets;   Hypocalcemic Vitamin D Resistant Rickets;   Hypophosphatemia, Vitamin D-Resistant Rickets;   Hypophosphatemic Ricket;   Hypophosphatemic Vitamin D Resistant Rickets;   Vitamin D-Resistant Rickets
 primary_id: MESH:D063730;   RDO:0015822
For additional species annotation, visit the Alliance of Genome Resources.


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Hypophosphatemic Rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11558021
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:10044208
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8554872
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1598933
RGD:8554872
RGD:10044239
RGD:7240710
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
Familial Hypophosphatemic Rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:11554173
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:8554872
RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8554872
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
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:7240710
RGD:8554872
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:6906930
RGD:8554872
RGD:7240710
RGD:6906931
Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:7240710
RGD:8554872
Vitamin D Hydroxylation-Deficient Rickets, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:7240710
RGD:8554872
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:7240710
RGD:8554872
RGD:13432060
RGD:13210792
RGD:13210780
RGD:13210778
RGD:8158074
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:7207229
RGD:11556248
RGD:11556247
RGD:11556246
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        phosphorus metabolism disease 183
          hypophosphatemia 16
            Hypophosphatemic Rickets 13
              Familial Hypophosphatemic Rickets + 13
              Hypophosphatemic Rickets and Hyperparathyroidism 0
Path 2
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        acquired metabolic disease 2713
          nutrition disease 847
            Malnutrition 176
              nutritional deficiency disease 169
                Avitaminosis 105
                  Vitamin D Deficiency 21
                    rickets 17
                      Hypophosphatemic Rickets 13
                        Familial Hypophosphatemic Rickets + 13
                        Hypophosphatemic Rickets and Hyperparathyroidism 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.