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ONTOLOGY REPORT - ANNOTATIONS


Term:mucopolysaccharidosis Ih
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Accession:DOID:0111390 term browser browse the term
Definition:A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: DYSOSTOSIS MULTIPLEX;   Dysostosis multiplex syndrome;   Gargoylism;   Gargoylisms;   Hurler Disease;   Hurler Syndrome;   Hurler Syndrome Gargoylism;   Hurler disease MPS type 1H;   Hurler's Disease;   Hurler's Syndrome;   L-iduronidase deficiency, Hurler type;   MPS I - Hurler syndrome;   MPS1-H;   Mucopolysaccharidosis Type Ih;   Mucopolysaccharidosis type I severe form;   Pfaundler-Hurler Syndrome
 alt_id: OMIM:607014
 xref: GARD:12559;   ORDO:93473
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mucopolysaccharidosis Ih term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idua alpha-L-iduronidase JBrowse link 14 2,041,828 2,056,762 RGD:7240710
RGD:8554872
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                mucopolysaccharidosis Ih 2
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lysosomal storage disease 420
              mucopolysaccharidosis 26
                mucopolysaccharidosis I 2
                  mucopolysaccharidosis Ih 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.