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Term:X-linked recessive hypophosphatemic rickets
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Accession:DOID:0080353 term browser browse the term
Definition:A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. (DO)
Synonyms:primary_id: OMIM:300554
For additional species annotation, visit the Alliance of Genome Resources.

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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

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 recessive disease 212
                X-linked recessive hypophosphatemic rickets 1
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 recessive 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.