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Sly syndrome English (Q1750471)

Item Discussion
mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    253220
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12803
    ICD-9
    277.5
    0 references
    DiseasesDB
    8389
    0 references
    Disease Ontology ID
    DOID:12803
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:12803
    Freebase ID
    /m/0krbf
    1 reference
    stated in
    Q15241312 (Deleted Item)
    publication date
    28 October 2013
    subclass of
    mucopolysaccharidosis English
    2 references
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:12803
    Q55788818 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    Q112193769 (Deleted Item)
    0 references
    NCI Thesaurus ID English
    C84903
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12803
    health speciality
    Q162606 (Deleted Item)
    0 references
    UMLS CUI English
    C0085132
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12803
    instance of
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    Q112193867 (Deleted Item)
    0 references
    mode of inheritance
    Q15729064 (Deleted Item)
    0 references
    genetic association English
    Q18026695 (Deleted Item)
    1 reference
    stated in
    Q905695 (Deleted Item)
    UniProt protein ID
    P08236
    retrieved
    13 August 2019
    JSTOR topic ID
    mucopolysaccharidosis-vii
    0 references
    ICD-10-CM English
    E76.29
    2 references
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12803
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    E76.2
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    MeSH
    D016538
    mapping relation type English
    exact match English
    named as
    Mucopolysaccharidosis VII
    1 reference
    stated in
    Q55345445 (Deleted Item)
    MonDO ID
    MONDO:0009662
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    ICD-9-CM
    277.6
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    Orphanet ID
    584
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009662
    MeSH Code
    C16.320.565.202.715.675
    0 references
    C16.320.565.595.600.675
    0 references
    C17.300.550.575.675
    0 references
    C18.452.648.202.715.675
    0 references
    C18.452.648.595.600.675
    0 references
    Genetics Home Reference Conditions ID English
    mucopolysaccharidosis-type-vii
    0 references
    Microsoft Academic ID
    2780107811
    0 references
    2909535402
    0 references
    KEGG ID English
    H00132
    0 references
    GARD rare disease ID
    7096
    0 references
     
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