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ONTOLOGY REPORT - ANNOTATIONS


Term:infantile hypophosphatasia
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Accession:DOID:0110914 term browser browse the term
Definition:A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. (DO)
Synonyms:exact_synonym: HOPS;   Phosphoethanolaminuria
 primary_id: MESH:C562646
 alt_id: OMIM:241500;   RDO:0012267
 xref: ORDO:247651
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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

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Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        inherited metabolic disorder 1884
          metal metabolism disorder 117
            hypophosphatasia 2
              infantile hypophosphatasia 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal dominant disease 2170
                hypophosphatasia 2
                  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.