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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant hypophosphatemic rickets
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Accession:DOID:0050948 term browser browse the term
Definition:A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: ADHR;   HYPOPHOSPHATEMIC RICKETS, DOMINANT;   Vitamin D-Resistant Rickets, Autosomal Dominant;   autosomal dominant hypophosphatemia
 primary_id: MESH:C562791
 alt_id: OMIM:193100;   RDO:0012358
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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:7240710
RGD:8554872
RGD:10044239

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Path 1
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                autosomal dominant hypophosphatemic rickets 1
Path 2
Term Annotations click to browse term
  disease 16017
    Nutritional and Metabolic Diseases 4634
      disease of metabolism 4634
        acquired metabolic disease 2730
          nutrition disease 866
            Malnutrition 179
              nutritional deficiency disease 172
                Avitaminosis 105
                  Vitamin D Deficiency 21
                    rickets 17
                      Hypophosphatemic Rickets 13
                        Familial Hypophosphatemic Rickets 13
                          autosomal dominant hypophosphatemic rickets 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.