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Fountain syndrome English (Q5474830)

Item Discussion
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    229120
    mapping relation type English
    exact match English
    2 references
    imported from Wikimedia project
    English Wikipedia
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    Orphanet ID
    3219
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    MeSH
    C537270
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    subclass of
    multiple abnormalities English
    0 references
    Q18553536 (Deleted Item)
    0 references
    genetic deafness English
    0 references
    Q55788734 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    Q55785288 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    Q55785866 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    GARD rare disease ID
    64
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    ICD-10-CM English
    Q87.8
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    UMLS CUI English
    C0795944
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    MonDO ID
    MONDO:0009241
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    instance of
    Q55789477 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009241
    Q112193867 (Deleted Item)
    0 references
    Microsoft Academic ID
    2778403219
    0 references
     
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