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erythropoietic protoporphyria English (Q1759600)

Item Discussion
acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue English
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Language Label Description Also known as
British English
No label defined
No description defined

    Statements

    OMIM
    177000
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:13270
    300752
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:13270
    177000
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    4 August 2018
    MonDO ID
    MONDO:0008319
    Freebase ID
    /m/02ktmx
    1 reference
    stated in
    Q15241312 (Deleted Item)
    publication date
    28 October 2013
    Disease Ontology ID
    DOID:13270
    1 reference
    stated in
    Disease Ontology English
    retrieved
    29 November 2020
    Disease Ontology ID
    DOID:13270
    NCI Thesaurus ID English
    C84698
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:13270
    C84698
    mapping relation type English
    Q39893184 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    3 August 2018
    MonDO ID
    MONDO:0001676
    C84698
    mapping relation type English
    exact match English
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    4 August 2018
    MonDO ID
    MONDO:0008319
    subclass of
    Q419897 (Deleted Item)
    1 reference
    stated in
    Disease Ontology English
    retrieved
    29 November 2020
    Disease Ontology ID
    DOID:13270
    Erythropoietic porphyria English
    0 references
    Q271759 (Deleted Item)
    0 references
    Q112193769 (Deleted Item)
    0 references
    health speciality
    Q162606 (Deleted Item)
    0 references
    Q171171 (Deleted Item)
    0 references
    Commons category
    Erythropoietic protoporphyria
    0 references
    instance of
    Q929833 (Deleted Item)
    0 references
    Q112193867 (Deleted Item)
    0 references
    UMLS CUI English
    C0162568
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:13270
    C0162568
    mapping relation type English
    Q39893184 (Deleted Item)
    2 references
    stated in
    Q55345445 (Deleted Item)
    retrieved
    3 August 2018
    MonDO ID
    MONDO:0001676
    stated in
    Q55345445 (Deleted Item)
    retrieved
    4 August 2018
    MonDO ID
    MONDO:0008319
    C0349426
    mapping relation type English
    Q39893184 (Deleted Item)
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    4 August 2018
    MonDO ID
    MONDO:0008319
    Orphanet ID
    79278
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:13270
    mode of inheritance
    Q116406 (Deleted Item)
    0 references
    genetic association English
    Q14904856 (Deleted Item)
    2 references
    stated in
    Q905695 (Deleted Item)
    UniProt protein ID
    P22830
    retrieved
    13 August 2019
    stated in
    Q28305594 (Deleted Item)
    Q17816607 (Deleted Item)
    1 reference
    stated in
    Q24642289 (Deleted Item)
    JSTOR topic ID
    erythropoietic-protoporphyria
    0 references
    ICD-10-CM English
    E80.0
    2 references
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:13270
    stated in
    Q55345445 (Deleted Item)
    retrieved
    3 August 2018
    MonDO ID
    MONDO:0001676
    GARD rare disease ID
    4527
    1 reference
    stated in
    Disease Ontology English
    retrieved
    15 May 2019
    Disease Ontology ID
    DOID:13270
    7476
    0 references
    BabelNet ID
    03307369n
    1 reference
    stated in
    BabelNet
    MeSH
    D046351
    mapping relation type English
    exact match English
    named as
    Protoporphyria, Erythropoietic
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    3 August 2018
    MonDO ID
    MONDO:0001676
    MonDO ID
    MONDO:0001676
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    3 August 2018
    MonDO ID
    MONDO:0001676
    MONDO:0008319
    1 reference
    stated in
    Q55345445 (Deleted Item)
    retrieved
    4 August 2018
    MonDO ID
    MONDO:0008319
    MeSH Code
    C06.552.830.812
    0 references
    C16.320.850.742.812
    0 references
    C17.800.827.742.812
    0 references
    C18.452.811.400.812
    0 references
    Encyclopædia Britannica Online ID
    science/erythropoietic-protoporphyria
    0 references
    Microsoft Academic ID
    2777799353
    0 references
    ICD-11 (foundation) English
    1642941362
    0 references
    UK Parliament thesaurus ID
    442881
    named as
    Erythropoietic protoporphyria
    0 references
    OpenAlex ID
    C2777799353
    1 reference
    stated in
    Q107507571 (Deleted Item)
    retrieved
    26 January 2022
    reference URL
    https://docs.openalex.org/download-snapshot/snapshot-data-format
     
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