{
    "disease_id": "DOID:0061064",
    "recommended_name": {
        "id": "DOID:0061064",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061064",
        "name": "immunodeficiency 94",
        "description": "A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11."
    },
    "synonyms": [
        {
            "id": "DOID:0061064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061064",
            "name": "immunodeficiency 94 with autoinflammation and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0030681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030681",
            "name": "immunodeficiency 94 with autoinflammation and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0030681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030681",
            "name": "IMD94",
            "description": ""
        },
        {
            "id": "MONDO:0030681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030681",
            "name": "immunodeficiency 94 with autoinflammation and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MIM:619750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619750",
            "name": "Immunodeficiency 94 with autoinflammation and dysmorphic facies",
            "description": "Immunodeficiency 94 with autoinflammation and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061064"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061064",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061064",
            "categories": []
        },
        {
            "id": "MONDO:0030681",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030681",
            "categories": []
        },
        {
            "id": "MIM:619750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q00560-1",
            "uniprot_ac": "Q00560",
            "uniprot_id": "IL6RB_MOUSE",
            "refseq_ac": "NP_034690",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "IL-6 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R-beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RB",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-6 signal transducer",
                    "type": "synonym"
                },
                {
                    "name": "Membrane glycoprotein 130",
                    "type": "synonym"
                },
                {
                    "name": "Oncostatin-M receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "gp130",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "membrane glycoprotein 130",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin-M receptor subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il6st",
                    "type": "recommended"
                },
                {
                    "name": "5133400A03Rik",
                    "type": "synonym"
                },
                {
                    "name": "CD130",
                    "type": "synonym"
                },
                {
                    "name": "D13Ertd699e",
                    "type": "synonym"
                },
                {
                    "name": "Il6st",
                    "type": "synonym"
                },
                {
                    "name": "gp130",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00560-1",
            "evidence": [
                {
                    "id": "0061064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40189-1",
            "uniprot_ac": "P40189",
            "uniprot_id": "IL6RB_HUMAN",
            "refseq_ac": "NP_001177910",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6 receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CD130 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CDw130",
                    "type": "synonym"
                },
                {
                    "name": "IL-6 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R-beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RB",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-6 signal transducer",
                    "type": "synonym"
                },
                {
                    "name": "Membrane glycoprotein 130",
                    "type": "synonym"
                },
                {
                    "name": "Oncostatin-M receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form",
                    "type": "synonym"
                },
                {
                    "name": "gp130, oncostatin M receptor",
                    "type": "synonym"
                },
                {
                    "name": "gp130",
                    "type": "synonym"
                },
                {
                    "name": "interleukin receptor beta chain",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit beta isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 signal transducer",
                    "type": "synonym"
                },
                {
                    "name": "membrane glycoprotein 130",
                    "type": "synonym"
                },
                {
                    "name": "membrane glycoprotein gp130",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin-M receptor subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL6ST",
                    "type": "recommended"
                },
                {
                    "name": "CD130",
                    "type": "synonym"
                },
                {
                    "name": "CDW130",
                    "type": "synonym"
                },
                {
                    "name": "GP130",
                    "type": "synonym"
                },
                {
                    "name": "HIES4A",
                    "type": "synonym"
                },
                {
                    "name": "HIES4B",
                    "type": "synonym"
                },
                {
                    "name": "HIES4",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RB",
                    "type": "synonym"
                },
                {
                    "name": "IL6ST",
                    "type": "synonym"
                },
                {
                    "name": "IMD94",
                    "type": "synonym"
                },
                {
                    "name": "STWS2",
                    "type": "synonym"
                },
                {
                    "name": "sGP130",
                    "type": "synonym"
                }
            ],
            "record_id": "P40189-1",
            "evidence": [
                {
                    "id": "619750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619750"
                },
                {
                    "id": "0061064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40190-1",
            "uniprot_ac": "P40190",
            "uniprot_id": "IL6RB_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 beta",
                    "type": "recommended"
                },
                {
                    "name": "IL-6 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6R-beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-6RB",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-6 signal transducer",
                    "type": "synonym"
                },
                {
                    "name": "Membrane glycoprotein 130",
                    "type": "synonym"
                },
                {
                    "name": "Oncostatin-M receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "gp130",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il6st",
                    "type": "recommended"
                }
            ],
            "record_id": "P40190-1",
            "evidence": [
                {
                    "id": "0061064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78352-1",
            "uniprot_ac": "P78352",
            "uniprot_id": "DLG4_HUMAN",
            "refseq_ac": "NP_001122299",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "PSD-95",
                    "type": "synonym"
                },
                {
                    "name": "Postsynaptic density protein 95",
                    "type": "synonym"
                },
                {
                    "name": "SAP-90",
                    "type": "synonym"
                },
                {
                    "name": "SAP90",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 90",
                    "type": "synonym"
                },
                {
                    "name": "Tax interaction protein 15",
                    "type": "synonym"
                },
                {
                    "name": "discs large homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "post-synaptic density protein 95",
                    "type": "synonym"
                },
                {
                    "name": "synapse-associated protein 90",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLG4",
                    "type": "recommended"
                },
                {
                    "name": "DLG4",
                    "type": "synonym"
                },
                {
                    "name": "MRD62",
                    "type": "synonym"
                },
                {
                    "name": "PSD95",
                    "type": "synonym"
                },
                {
                    "name": "SAP-90",
                    "type": "synonym"
                },
                {
                    "name": "SAP90",
                    "type": "synonym"
                }
            ],
            "record_id": "P78352-1",
            "evidence": [
                {
                    "id": "0061064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061064"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061064"
}