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branchiooculofacial syndrome English (Q9390211)

Item Discussion
autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts 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
    Q55789477 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    Q55788864 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    OMIM
    113620
    1 reference
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0050691
    Orphanet ID
    1297
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    Disease Ontology ID
    DOID:0050691
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0050691
    subclass of
    Q18553439 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0050691
    Q55785290 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    Q55785405 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    Q55785844 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    Q179630 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    30 November 2020
    Disease Ontology ID
    DOID:0050691
    GARD rare disease ID
    3212
    2 references
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    stated in
    Disease Ontology English
    retrieved
    28 August 2019
    Disease Ontology ID
    DOID:0050691
    ICD-10-CM English
    Q18.8
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    UMLS CUI English
    C0376524
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    ICD-9-CM
    759.89
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    MonDO ID
    MONDO:0007235
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    28 July 2018
    MonDO ID
    MONDO:0007235
    genetic association English
    Q18031952 (Deleted Item)
    2 references
    stated in
    Q905695 (Deleted Item)
    UniProt protein ID
    P05549
    retrieved
    13 August 2019
    stated in
    Q24655671 (Deleted Item)
    Microsoft Academic ID
    2780645412
    0 references
    2908609608
    0 references
    KEGG ID English
    H00817
    0 references
    ICD-11 (foundation) English
    1471530044
    0 references
    Genetics Home Reference Conditions ID English
    branchio-oculo-facial-syndrome
    0 references
     
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