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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypophosphatemic Rickets, Autosomal Recessive, 2
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Accession:DOID:9001198 term browser browse the term
Synonyms:exact_synonym: ARHR2
 primary_id: MESH:C567647;   RDO:0015663
 alt_id: OMIM:613312
For additional species annotation, visit the Alliance of Genome Resources.


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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:6906931
RGD:7240710
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
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                autosomal recessive hypophosphatemic rickets 5
                  Hypophosphatemic Rickets, Autosomal Recessive, 2 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
                          autosomal recessive hypophosphatemic rickets 5
                            Hypophosphatemic Rickets, Autosomal Recessive, 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.