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diastrophic dysplasia English (Q3335666)

Item Discussion
osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    222600
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 Mayıs 2019
    Disease Ontology ID
    DOID:14687
    Freebase ID
    /m/055lbw
    1 reference
    stated in
    Q15241312 (Deleted Item)
    publication date
    28 October 2013
    Disease Ontology ID
    DOID:14687
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:14687
    subclass of
    osteochondrodysplasia English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:14687
    Q55787807 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    Q55788800 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    Q200779 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 Mayıs 2019
    Disease Ontology ID
    DOID:14687
    autosomal recessive disease English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:14687
    Orphanet ID
    628
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    UMLS CUI English
    C1857255
    mapping relation type English
    Q39893184 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    C0220726
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 Mayıs 2019
    Disease Ontology ID
    DOID:14687
    instance of
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    health speciality
    Q1071953 (Deleted Item)
    0 references
    ICD-10-CM English
    Q77.5
    2 references
    stated in
    Disease Ontology English
    retrieved
    15 Mayıs 2019
    Disease Ontology ID
    DOID:14687
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    GARD rare disease ID
    6275
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 Mayıs 2019
    Disease Ontology ID
    DOID:14687
    MeSH
    C536170
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    C536170
    0 references
    MonDO ID
    MONDO:0009107
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    ICD-9-CM
    756.89
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0009107
    NCI Thesaurus ID English
    C156311
    0 references
    Encyclopædia Britannica Online ID
    science/diastrophic-dwarfism
    0 references
    Genetics Home Reference Conditions ID English
    diastrophic-dysplasia
    0 references
    Microsoft Academic ID
    2779983348
    0 references
    ID (MMS) English
    LD24.03
    named as
    Diastrophic dysplasia
    0 references
    ICD-11 (foundation) English
    1681550532
    0 references
    KEGG ID English
    H02063
    0 references
    YSO ID
    16892
    named as
    diastrofinen dysplasia
    diastrofisk dysplasi
    diastrophic dysplasia
    1 reference
    stated in
    Q89345680 (Deleted Item)
    retrieved
    28 Ocak 2022
     
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