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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7801
        genetic disease 7294
          monogenic disease 4989
            X-linked monogenic disease 854
              X-linked recessive disease 212
                X-linked recessive hypophosphatemic rickets 1
Path 2
Term Annotations click to browse term
  disease 15608
    Nutritional and Metabolic Diseases 4389
      disease of metabolism 4389
        acquired metabolic disease 2697
          nutrition disease 854
            Malnutrition 176
              nutritional deficiency disease 169
                Avitaminosis 104
                  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.