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Bloom syndrome (Q1469646)

Item Discussion
rare genetic disorder with short strature and predisposition to cancer English
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Language Label Description Also known as
British English
Bloom syndrome
No description defined

    Statements

    mode of inheritance
    Q15729064 (Deleted Item)
    0 references
    OMIM
    210900
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:2717
    Freebase ID
    /m/04hrr1
    1 reference
    stated in
    Q15241312 (Deleted Item)
    publication date
    28 October 2013
    image
    4cgz.png
    0 references
    Disease Ontology ID
    DOID:2717
    1 reference
    stated in
    Disease Ontology English
    retrieved
    24 November 2020
    Disease Ontology ID
    DOID:2717
    NCI Thesaurus ID English
    C2903
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:2717
    health speciality
    Q1071953 (Deleted Item)
    0 references
    subclass of
    autosomal recessive disease English
    2 references
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    stated in
    Disease Ontology English
    retrieved
    24 November 2020
    Disease Ontology ID
    DOID:2717
    Q55785838 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q55785832 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q55785837 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    tumor of hematopoietic and lymphoid tissues English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    photodermatosis English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q55785846 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q55785400 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q55785399 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q55785542 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q55785655 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q179630 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    24 November 2020
    Disease Ontology ID
    DOID:2717
    Q112193769 (Deleted Item)
    0 references
    Commons category
    Bloom's syndrome
    0 references
    instance of
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    UMLS CUI English
    C0005859
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:2717
    Orphanet ID
    125
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:2717
    JSTOR topic ID
    bloom-syndrome
    0 references
    MeSH
    D001816
    mapping relation type English
    exact match English
    named as
    Bloom Syndrome
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    ICD-10-CM English
    Q82.2
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    MonDO ID
    MONDO:0008876
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    ICD-9-CM
    757.39
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    GARD rare disease ID
    915
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008876
    MeSH Code
    C16.131.077.137
    0 references
    C18.452.284.100
    0 references
    Microsoft Academic ID
    2779013463
    0 references
    KEGG ID English
    H01346
    0 references
    ICD-11 (foundation) English
    1838213890
    0 references
    Genetics Home Reference Conditions ID English
    bloom-syndrome
    0 references
    OpenAlex ID
    C2779013463
    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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