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ONTOLOGY REPORT - ANNOTATIONS


Term:adult hypophosphatasia
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Accession:DOID:0110913 term browser browse the term
Definition:A hypophosphatasia that has_material_basis_in a heterozygous mutation of ALPL on chromosome 1p36.12. (DO)
Synonyms:exact_synonym: mild hypophosphatasia
 primary_id: MESH:C562647
 alt_id: OMIM:146300
 xref: ORDO:247676
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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

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Path 1
Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1887
          metal metabolism disorder 116
            hypophosphatasia 2
              adult hypophosphatasia 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal dominant disease 2311
                hypophosphatasia 2
                  adult 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.