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ONTOLOGY REPORT - ANNOTATIONS


Term:Vitamin D Hydroxylation-Deficient Rickets, Type 1A
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Accession:DOID:9007567 term browser browse the term
Synonyms:exact_synonym: 1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective;   1-Alpha-Hydroxylase Deficiency;   25-Hydroxycholecalciferol-1-Hydroxylase Deficiency;   PDDR IA;   PDDR1A;   Pseudovitamin D-Deficiency Rickets, Type IA;   VDD1;   VDDR1A;   Vitamin D Dependency, Type 1;   Vitamin D-Dependent Rickets, Type 1A
 related_synonym: vitamin D-deficiency rickets, type I
 primary_id: MESH:C562688
 alt_id: OMIA:000837;   OMIM:264700;   RDO:0012292
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Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 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
                  Vitamin D Hydroxylation-Deficient Rickets, Type 1A 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 1A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.