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;   Hypophosphatemia, Autosomal Dominant;   Vitamin D-Resistant Rickets, Autosomal Dominant
 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

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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                autosomal dominant hypophosphatemic rickets 1
Path 2
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          nutrition disease 832
            Malnutrition 182
              nutritional deficiency disease 175
                Avitaminosis 114
                  Vitamin D Deficiency 24
                    rickets 20
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 16
                          autosomal dominant hypophosphatemic rickets 1
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