ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive hypophosphatemic rickets
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Accession:DOID:0050949 term browser browse the term
Definition:A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO)
Synonyms:exact_synonym: recessive hypophosphatemic rickets
 primary_id: RDO:9005114
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autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:7240710
RGD:8554872
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:8554872
RGD:7240710
RGD:6906931
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
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
G Trappc9 trafficking protein particle complex 9 JBrowse link 7 113,986,363 114,309,090 RGD:8554872
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
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:13432060
RGD:13210792
RGD:13210780
RGD:13210778
RGD:8554872
RGD:8158074

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Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                autosomal recessive hypophosphatemic rickets 8
                  Hypophosphatemic Rickets, Autosomal Recessive, 1 1
                  Hypophosphatemic Rickets, Autosomal Recessive, 2 1
                  Vitamin D Hydroxylation-Deficient Rickets, Type 1A 4
                  Vitamin D Hydroxylation-Deficient Rickets, Type 1B 1
                  Vitamin D-Dependent Rickets, Type 2A 1
                  Vitamin D-Dependent Rickets, Type 2B, with Normal Vitamin D Receptor 0
Path 2
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          nutrition disease 832
            Malnutrition 182
              nutritional deficiency disease 175
                Avitaminosis 114
                  Vitamin D Deficiency 24
                    rickets 20
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 16
                          autosomal recessive hypophosphatemic rickets 8
                            Hypophosphatemic Rickets, Autosomal Recessive, 1 1
                            Hypophosphatemic Rickets, Autosomal Recessive, 2 1
                            Vitamin D Hydroxylation-Deficient Rickets, Type 1A 4
                            Vitamin D Hydroxylation-Deficient Rickets, Type 1B 1
                            Vitamin D-Dependent Rickets, Type 2A 1
                            Vitamin D-Dependent Rickets, Type 2B, with Normal Vitamin D Receptor 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.