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Griscelli syndrome type 1 English (Q5358728)

Item Discussion
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2. English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    214450
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060832
    subclass of
    Griscelli syndrome English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    23 November 2021
    Disease Ontology ID
    DOID:0060832
    Orphanet ID
    79476
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060832
    instance of
    malformation syndrome English
    0 references
    Q112193867 (Deleted Item)
    0 references
    different from
    Q17122137 (Deleted Item)
    0 references
    UMLS CUI English
    C1859194
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060832
    Disease Ontology ID
    DOID:0060832
    1 reference
    stated in
    Disease Ontology English
    retrieved
    23 November 2021
    Disease Ontology ID
    DOID:0060832
    GARD rare disease ID
    2566
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060832
    MeSH
    C537301
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060832
    Microsoft Academic ID
    2780565392
    0 references
    ICD-11 (foundation) English
    875700770
    0 references
     
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