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ONTOLOGY REPORT - ANNOTATIONS


Term:Vitamin D-Dependent Rickets, Type 2A
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Accession:DOID:9004471 term browser browse the term
Synonyms:exact_synonym: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D;   HVDRR;   HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS;   Hereditary Vitamin D-Resistant Rickets;   PDDR IIA;   Pseudovitamin D-Deficiency, Type IIA;   Rickets-Alopecia syndrome;   VDDR2A;   VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA;   VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL;   vitamin D-deficiency rickets, type II
 related_synonym: VITAMIN D-DEPENDENT RICKETS
 primary_id: MESH:C562794
 alt_id: OMIA:001431;   OMIM:277440;   RDO:0012293;   RDO:0012361
For additional species annotation, visit the Alliance of Genome Resources.


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Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:7240710
RGD:8158074
RGD:8554872
RGD:13210778
RGD:13210780
RGD:13210792
RGD:13432060

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  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                autosomal recessive hypophosphatemic rickets 5
                  Vitamin D-Dependent Rickets, Type 2A 1
Path 2
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2701
          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-Dependent Rickets, Type 2A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.