ONTOLOGY REPORT - ANNOTATIONS


Term:hypophosphatasia
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Accession:DOID:14213 term browser browse the term
Definition:A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
Synonyms:exact_synonym: deficiency of alkaline phosphatase;   hypophospatasia, childhood;   hypophosphatasias
 primary_id: MESH:D007014
 alt_id: RDO:0005865
 xref: GARD:6734
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hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:1599076
RGD:8554872
RGD:11554173
G P2rx7 purinergic receptor P2X 7 JBrowse link 12 39,353,613 39,396,042 RGD:11554173
adult hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
RGD:8554872
childhood hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
RGD:8554872
infantile hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
RGD:8554872
Odontohypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:8554872
Perinatal Lethal Hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:8554872

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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          metal metabolism disorder 123
            hypophosphatasia 2
              Odontohypophosphatasia 1
              Perinatal Lethal Hypophosphatasia 1
              adult hypophosphatasia 1
              childhood hypophosphatasia 1
              infantile hypophosphatasia 1
Path 2
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 dominant disease 1098
                hypophosphatasia 2
                  Odontohypophosphatasia 1
                  Perinatal Lethal Hypophosphatasia 1
                  adult hypophosphatasia 1
                  childhood hypophosphatasia 1
                  infantile hypophosphatasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.