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mucopolysaccharidosis I English (Q1906054)

Item Discussion
Lysosomal storage disease English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    BNCF Thesaurus
    21915
    1 reference
    stated in
    Q460907 (Deleted Item)
    OMIM
    607014
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12802
    607015
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12802
    Freebase ID
    /m/0488nr
    1 reference
    stated in
    Q15241312 (Deleted Item)
    publication date
    28 October 2013
    Disease Ontology ID
    DOID:12802
    0 references
    subclass of
    mucopolysaccharidosis English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:12802
    Q112193769 (Deleted Item)
    0 references
    NCI Thesaurus ID English
    C85053
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12802
    health speciality
    Q162606 (Deleted Item)
    0 references
    UMLS CUI English
    C0023786
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12802
    C0086795
    1 reference
    stated in
    Q57084043 (Deleted Item)
    retrieved
    8 October 2018
    Human Phenotype Ontology ID English
    HP:0000943
    instance of
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    drug or therapy used for treatment English
    Q20801774 (Deleted Item)
    1 reference
    stated in
    Q21008030 (Deleted Item)
    NDF-RT ID English
    N0000148807
    language of work or name
    English
    retrieved
    13 December 2016
    mode of inheritance
    Q15729064 (Deleted Item)
    0 references
    genetic association English
    IDUA English
    1 reference
    stated in
    Q55670718 (Deleted Item)
    Commons category
    Hurler syndrome
    0 references
    ICD-10-CM English
    E76.0
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12802
    Orphanet ID
    579
    0 references
    JSTOR topic ID
    mucopolysaccharidosis-i
    0 references
    GARD rare disease ID
    10335
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12802
    Encyclopædia Universalis ID English
    maladie-de-hurler
    0 references
    MeSH
    D008059
    2 references
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:12802
    stated in
    Q57084043 (Deleted Item)
    retrieved
    8 October 2018
    Human Phenotype Ontology ID English
    HP:0000943
    MeSH Code
    C16.320.565.202.715.640
    0 references
    C16.320.565.595.600.640
    0 references
    C17.300.550.575.640
    0 references
    C18.452.648.202.715.640
    0 references
    C18.452.648.595.600.640
    0 references
    Human Phenotype Ontology ID English
    HP:0000943
    0 references
    Encyclopædia Britannica Online ID
    science/Hurler-Scheie-syndrome
    0 references
    ID (MMS) English
    5C56.30
    named as
    Mucopolysaccharidosis type 1
    0 references
    ICD-11 (foundation) English
    1539226250
    0 references
    KEGG ID English
    H00128
    0 references
     
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