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microcephalic osteodysplastic primordial dwarfism type II English (Q6839323)

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

    Statements

    OMIM
    210720
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060609
    subclass of
    osteochondrodysplasia English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0060609
    primordial dwarfism English
    0 references
    Q55788342 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    Q55786310 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    Q55787615 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    Q200779 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 Mayıs 2019
    Disease Ontology ID
    DOID:0060609
    autosomal recessive disease English
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0060609
    Q55762664 (Deleted Item)
    0 references
    Disease Ontology ID
    DOID:0060609
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0060609
    instance of
    malformation syndrome English
    0 references
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    Orphanet ID
    2637
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060609
    health speciality
    Q1071953 (Deleted Item)
    0 references
    ICD-10-CM English
    Q87.1
    2 references
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0060609
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    MonDO ID
    MONDO:0008872
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    GARD rare disease ID
    9844
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    UMLS CUI English
    C0432246
    mapping relation type English
    Q39893184 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    MeSH
    C565898
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0008872
    genetic association English
    Q18030385 (Deleted Item)
    2 references
    stated in
    Q905695 (Deleted Item)
    UniProt protein ID
    O95613
    retrieved
    13 August 2019
    stated in
    Q28263536 (Deleted Item)
    Genetics Home Reference Conditions ID English
    microcephalic-osteodysplastic-primordial-dwarfism-type-ii
    0 references
    Microsoft Academic ID
    2908629441
    0 references
    KEGG ID English
    H00991
    0 references
     
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