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ADULT syndrome English (Q9390205)

Item Discussion
rare human genetic disease English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    instance of
    malformation syndrome English
    0 references
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    OMIM
    103285
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0050601
    MeSH
    C538052
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    Orphanet ID
    978
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    Disease Ontology ID
    DOID:0050601
    1 reference
    stated in
    Disease Ontology English
    retrieved
    29 November 2020
    Disease Ontology ID
    DOID:0050601
    subclass of
    Q18553439 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    29 November 2020
    Disease Ontology ID
    DOID:0050601
    Q55787046 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    Q55789198 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    Q55788097 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    Q55785406 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    Q179630 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    29 November 2020
    Disease Ontology ID
    DOID:0050601
    GARD rare disease ID
    384
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0050601
    ICD-10-CM English
    Q87.2
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    UMLS CUI English
    C1863204
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    MonDO ID
    MONDO:0007072
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007072
    genetic association English
    Q15313986 (Deleted Item)
    2 references
    stated in
    Q905695 (Deleted Item)
    UniProt protein ID
    Q9H3D4
    retrieved
    13 August 2019
    stated in
    Q55670364 (Deleted Item)
    Microsoft Academic ID
    2780959281
    0 references
    KEGG ID English
    H00641
    0 references
    ICD-11 (foundation) English
    1445741645
    0 references
     
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