{
    "disease_id": "DOID:0080545",
    "recommended_name": {
        "id": "DOID:0080545",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080545",
        "name": "hyper IgE syndrome",
        "description": "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs."
    },
    "synonyms": [
        {
            "id": "DOID:0080545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080545",
            "name": "hyper immunoglobulin E syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyper-IgE recurrent infection syndrome 1, autosomal dominant",
            "description": "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome."
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyper-IgE recurrent infection syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyperimmunoglobulin E-recurrent infection syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "AD hyperimmunoglobulin E syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "AD-HIES",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "Buckley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "HIES autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "HIES, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "JOB syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "Job syndrome autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "Job's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "STAT3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "autosomal dominant HIES",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "autosomal dominant hyper IgE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "autosomal dominant hyper-IgE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "autosomal dominant hyperimmunoglobulin E syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyper Ig E syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyper-IgE recurrent infection syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyper-IgE syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "hyperimmunoglobulin E syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "name": "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist",
            "description": ""
        },
        {
            "id": "MIM:147060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/147060",
            "name": "Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections",
            "description": "Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections"
        }
    ],
    "children": [
        {
            "id": "DOID:0080594",
            "label": "hyper IgE recurrent infection syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080595",
            "label": "autosomal recessive hyper-IgE syndrome 3 with recurrent infections",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080596",
            "label": "hyper IgE recurrent infection syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:3261",
            "label": "autosomal dominant hyper-IgE syndrome 1 with recurrent infections",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080594",
        "DOID:0080595",
        "DOID:3261",
        "DOID:0080596",
        "DOID:0080545"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080545",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080545",
            "categories": []
        },
        {
            "id": "MONDO:0007818",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007818",
            "categories": []
        },
        {
            "id": "MIM:147060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/147060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HF08-1",
            "uniprot_ac": "A0AC58HF08",
            "uniprot_id": "A0AC58HF08_DANRE",
            "refseq_ac": "XP_073780535",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6 receptor subunit alpha isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit alpha isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il6r",
                    "type": "recommended"
                },
                {
                    "name": "il-6ra",
                    "type": "synonym"
                },
                {
                    "name": "il-6r",
                    "type": "synonym"
                },
                {
                    "name": "il6r",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HF08-1",
            "evidence": [
                {
                    "id": "0080545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22272-1",
            "uniprot_ac": "P22272",
            "uniprot_id": "IL6RA_MOUSE",
            "refseq_ac": "NP_034689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-6 receptor alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "IL-6 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R 1",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit alpha isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il6ra",
                    "type": "recommended"
                },
                {
                    "name": "CD126",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RA",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R",
                    "type": "synonym"
                },
                {
                    "name": "Il6ra",
                    "type": "synonym"
                },
                {
                    "name": "Il6r",
                    "type": "synonym"
                }
            ],
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                    "id": "0080545",
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        },
        {
            "uniprot_canonical_ac": "P40763-1",
            "uniprot_ac": "P40763",
            "uniprot_id": "STAT3_HUMAN",
            "refseq_ac": "NP_003141",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription 3",
                    "type": "recommended"
                },
                {
                    "name": "Acute-phase response factor",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein APRF",
                    "type": "synonym"
                },
                {
                    "name": "acute-phase response factor",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAT3",
                    "type": "recommended"
                },
                {
                    "name": "ADMIO1",
                    "type": "synonym"
                },
                {
                    "name": "ADMIO",
                    "type": "synonym"
                },
                {
                    "name": "APRF",
                    "type": "synonym"
                },
                {
                    "name": "HIES",
                    "type": "synonym"
                },
                {
                    "name": "STAT3",
                    "type": "synonym"
                }
            ],
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                    "id": "147060",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22273-1",
            "uniprot_ac": "P22273",
            "uniprot_id": "IL6RA_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-6 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R 1",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RA",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Il6r",
                    "type": "recommended"
                },
                {
                    "name": "Il6ra",
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                }
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                    "id": "0080545",
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        },
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            "uniprot_canonical_ac": "Q92796-1",
            "uniprot_ac": "Q92796",
            "uniprot_id": "DLG3_HUMAN",
            "refseq_ac": "NP_001159750",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 3",
                    "type": "recommended"
                },
                {
                    "name": "Neuroendocrine-DLG",
                    "type": "synonym"
                },
                {
                    "name": "SAP-102",
                    "type": "synonym"
                },
                {
                    "name": "SAP102",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 102",
                    "type": "synonym"
                },
                {
                    "name": "XLMR",
                    "type": "synonym"
                },
                {
                    "name": "discs, large homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine-DLG",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 82",
                    "type": "synonym"
                },
                {
                    "name": "synapse-associated protein 102",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DLG3",
                    "type": "recommended"
                },
                {
                    "name": "DLG3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1232",
                    "type": "synonym"
                },
                {
                    "name": "MRX90",
                    "type": "synonym"
                },
                {
                    "name": "MRX",
                    "type": "synonym"
                },
                {
                    "name": "NEDLG",
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                },
                {
                    "name": "PPP1R82",
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                },
                {
                    "name": "SAP102",
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                },
                {
                    "name": "XLID90",
                    "type": "synonym"
                },
                {
                    "name": "XLMR",
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                    "id": "0080545",
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            ]
        },
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            "uniprot_canonical_ac": "P08887-1",
            "uniprot_ac": "P08887",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6 receptor subunit alpha",
                    "type": "recommended"
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                    "name": "CD126 antigen",
                    "type": "synonym"
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                    "name": "IL-6 receptor subunit alpha",
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                    "name": "IL-6R 1",
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                    "name": "IL-6R subunit alpha",
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                {
                    "name": "IL-6R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RA",
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                },
                {
                    "name": "Membrane glycoprotein 80",
                    "type": "synonym"
                },
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                    "name": "gp80",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit alpha isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "membrane glycoprotein 80",
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            ],
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                    "name": "IL6R",
                    "type": "recommended"
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                    "name": "CD126",
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                },
                {
                    "name": "HIES5",
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                },
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                    "name": "IL-1Ra",
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                },
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                    "name": "IL-6R-1",
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                {
                    "name": "IL-6RA",
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                },
                {
                    "name": "IL-6R",
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                {
                    "name": "IL6QTL",
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                {
                    "name": "IL6Q",
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                    "name": "IL6RA",
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                },
                {
                    "name": "IL6RQ",
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                {
                    "name": "IL6R",
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                },
                {
                    "name": "gp80",
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            ],
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                    "id": "0080545",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080545"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080545"
}