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mucopolysaccharidosis II English (Q1529983)

Item Discussion
mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    309900
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12799
    Freebase ID
    /m/0dy6s1
    1 reference
    stated in
    Q15241312 (Deleted Item)
    publication date
    28 October 2013
    Disease Ontology ID
    DOID:12799
    1 reference
    stated in
    Disease Ontology English
    retrieved
    29 November 2021
    Disease Ontology ID
    DOID:12799
    NCI Thesaurus ID English
    C61260
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12799
    subclass of
    mucopolysaccharidosis English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    29 November 2021
    Disease Ontology ID
    DOID:12799
    Q55785814 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Q55788606 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    hypertrophic cardiomyopathy English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Q55788818 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Q622427 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Q55786146 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Q55786143 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Q112193769 (Deleted Item)
    0 references
    health speciality
    Q162606 (Deleted Item)
    0 references
    UMLS CUI English
    C2718304
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    C0026705
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12799
    instance of
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    mode of inheritance
    X-linked recessive English
    0 references
    JSTOR topic ID
    mucopolysaccharidosis-ii
    0 references
    ICD-10-CM English
    E76.1
    2 references
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12799
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    GARD rare disease ID
    6675
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12799
    Encyclopædia Universalis ID English
    maladie-de-hunter
    0 references
    MeSH
    D016532
    mapping relation type English
    exact match English
    named as
    Mucopolysaccharidosis II
    1 reference
    stated in
    Q55345445 (Deleted Item)
    MonDO ID
    MONDO:0010674
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    Orphanet ID
    580
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010674
    MeSH Code
    C10.597.606.643.455.750
    0 references
    C16.320.322.500.750
    0 references
    C16.320.400.525.750
    0 references
    C16.320.565.202.715.645
    0 references
    C16.320.565.595.600.645
    0 references
    C17.300.550.575.645
    0 references
    C18.452.648.202.715.645
    0 references
    C18.452.648.595.600.645
    0 references
    drug or therapy used for treatment English
    Q415801 (Deleted Item)
    1 reference
    stated in
    Q56863002 (Deleted Item)
    retrieved
    2 October 2018
    Commons category
    Hunter syndrome
    0 references
    Encyclopædia Britannica Online ID
    science/Hunter-syndrome
    0 references
    Genetics Home Reference Conditions ID English
    mucopolysaccharidosis-type-ii
    0 references
    ID (MMS) English
    5C56.31
    named as
    Mucopolysaccharidosis type 2
    0 references
    ICD-11 (foundation) English
    1056274204
    0 references
    KEGG ID English
    H00129
    0 references
    OpenAlex ID
    C2776225084
    1 reference
    stated in
    Q107507571 (Deleted Item)
    retrieved
    26 January 2022
    reference URL
    https://docs.openalex.org/download-snapshot/snapshot-data-format
    C2910638406
    1 reference
    stated in
    Q107507571 (Deleted Item)
    retrieved
    26 January 2022
    reference URL
    https://docs.openalex.org/download-snapshot/snapshot-data-format
     
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