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ONTOLOGY REPORT - ANNOTATIONS


Term:Vitamin D Hydroxylation-Deficient Rickets, Type 1B
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Accession:DOID:9007053 term browser browse the term
Synonyms:exact_synonym: 25-Hydroxyvitamin D3 Deficiency, Selective;   Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency;   VDDR1B;   Vitamin D-Dependent Rickets, Type 1B
 primary_id: MESH:C564005
 alt_id: OMIM:600081;   RDO:0013108
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Vitamin D Hydroxylation-Deficient Rickets, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:7240710
RGD:8554872

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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
                  Vitamin D Hydroxylation-Deficient Rickets, Type 1B 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
                            Vitamin D Hydroxylation-Deficient Rickets, Type 1B 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.