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Schinzel–Giedion syndrome English (Q7431481)

Item Discussion
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    269150
    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:0010010
    instance of
    disease
    1 reference
    stated in
    Q34265616 (Deleted Item)
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    Orphanet ID
    798
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    MeSH
    C536632
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    subclass of
    ectodermal dysplasia English
    0 references
    Q55788832 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    Q55785289 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    Q55785832 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    Q55785866 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    GARD rare disease ID
    117
    0 references
    NCI Thesaurus ID English
    C129308
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    ICD-10-CM English
    Q87.0
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    ICD-9-CM
    759.89
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    MonDO ID
    MONDO:0010010
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    UMLS CUI English
    C1849294
    mapping relation type English
    Q39893184 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    C0265227
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0010010
    genetic association English
    SETBP1 English
    3 references
    stated in
    Q905695 (Deleted Item)
    UniProt protein ID
    Q9Y6X0
    retrieved
    13 August 2019
    stated in
    Q45340629 (Deleted Item)
    stated in
    Q64403342 (Deleted Item)
    retrieved
    11 April 2022
    reference URL
    https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71885c03-b578-4baf-a17c-4817349eaf36-2021-02-16T170000.000Z
    Microsoft Academic ID
    2775890718
    0 references
    KEGG ID English
    H00922
    0 references
    ICD-11 (foundation) English
    1542318431
    0 references
     
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