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GRACILE syndrome English (Q5514398)

Item Discussion
inherited metabolic disease English
edit
Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    603358
    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:0011308
    subclass of
    iron overload
    0 references
    Q55787305 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    autosomal recessive disease English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0111455
    Q935710 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0111455
    Orphanet ID
    53693
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    instance of
    disease
    1 reference
    stated in
    Q34745515 (Deleted Item)
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    MeSH
    C537934
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    has cause
    point mutation English
    of
    Q17847759 (Deleted Item)
    0 references
    mode of inheritance
    Q15729064 (Deleted Item)
    0 references
    symptoms and signs English
    lactic acidosis English
    0 references
    aminoaciduria English
    0 references
    Q1075923 (Deleted Item)
    0 references
    Q147778 (Deleted Item)
    0 references
    Q46981118 (Deleted Item)
    0 references
    deafness English
    0 references
    Q46981386 (Deleted Item)
    0 references
    intrauterine growth restriction English
    0 references
    Q46981501 (Deleted Item)
    0 references
    Q46981523 (Deleted Item)
    0 references
    ICD-10-CM English
    E88.8
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    ICD-9-CM
    759.89
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    MonDO ID
    MONDO:0011308
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    UMLS CUI English
    C1864002
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0011308
    genetic association English
    Q17847759 (Deleted Item)
    2 references
    stated in
    Q905695 (Deleted Item)
    UniProt protein ID
    Q9Y276
    retrieved
    13 August 2019
    stated in
    Q24295183 (Deleted Item)
    Microsoft Academic ID
    2778662001
    0 references
    KEGG ID English
    H02007
    0 references
    Disease Ontology ID
    DOID:0111455
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0111455
    Genetics Home Reference Conditions ID English
    gracile-syndrome
    0 references
    YSO ID
    38763
    named as
    GRACILE-oireyhtymä
    GRACILE-syndrom
    GRACILE syndrome
    1 reference
    stated in
    Q89345680 (Deleted Item)
    retrieved
    31 January 2022
     
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