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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the IDUA gene on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: 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;   Pfaundler-Hurler syndrome;   dysostosis multiplex;   dysostosis multiplex syndrome;   mucopolysaccharidosis type I severe form
 alt_id: OMIM:607014
 xref: GARD:12559;   ICD10CM:E76.01;   NCI:C61261;   ORDO:93473


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mucopolysaccharidosis Ih term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877 		JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal recessive disease 6559
                mucopolysaccharidosis Ih 3
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            lysosomal storage disease 939
              mucopolysaccharidosis 41
                mucopolysaccharidosis I 3
                  mucopolysaccharidosis Ih 3
paths to the root