{
    "disease_id": "DOID:0111994",
    "recommended_name": {
        "id": "DOID:0111994",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111994",
        "name": "immunodeficiency 45",
        "description": "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111994",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111994",
            "name": "IMD45",
            "description": ""
        },
        {
            "id": "MONDO:0014727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014727",
            "name": "immunodeficiency 45",
            "description": ""
        },
        {
            "id": "MONDO:0014727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014727",
            "name": "IMD45",
            "description": ""
        },
        {
            "id": "MONDO:0014727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014727",
            "name": "immunodeficiency 45",
            "description": ""
        },
        {
            "id": "MONDO:0014727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014727",
            "name": "immunodeficiency type 45",
            "description": ""
        },
        {
            "id": "MIM:616669",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616669",
            "name": "Immunodeficiency 45",
            "description": "Immunodeficiency 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111994"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111994",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111994",
            "categories": []
        },
        {
            "id": "MONDO:0014727",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014727",
            "categories": []
        },
        {
            "id": "MIM:616669",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616669",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5P1-1",
            "uniprot_ac": "A0ACD6B5P1",
            "uniprot_id": "A0ACD6B5P1_DANRE",
            "refseq_ac": "XP_073780594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon lambda receptor 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "interferon lambda receptor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ifnlr1",
                    "type": "recommended"
                },
                {
                    "name": "crfb14",
                    "type": "synonym"
                },
                {
                    "name": "ifnlr1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5P1-1",
            "evidence": [
                {
                    "id": "0111994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BFF0-1",
            "uniprot_ac": "A0A8M2BFF0",
            "uniprot_id": "A0A8M2BFF0_DANRE",
            "refseq_ac": "XP_005168017",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor family member b2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor family member b2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crfb2",
                    "type": "recommended"
                },
                {
                    "name": "crfb2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BFF0-1",
            "evidence": [
                {
                    "id": "0111994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35664-1",
            "uniprot_ac": "O35664",
            "uniprot_id": "INAR2_MOUSE",
            "refseq_ac": "NP_001103968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon alpha/beta receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "IFN-R-2",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha/beta receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Type I interferon receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 2 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon receptor 2a'",
                    "type": "synonym"
                },
                {
                    "name": "interferon receptor 2c",
                    "type": "synonym"
                },
                {
                    "name": "type I interferon alpha/beta receptor 2a",
                    "type": "synonym"
                },
                {
                    "name": "type I interferon receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifnar2",
                    "type": "recommended"
                },
                {
                    "name": "IFN-R-2",
                    "type": "synonym"
                },
                {
                    "name": "Ifnar-2",
                    "type": "synonym"
                },
                {
                    "name": "Ifnar2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35664-1",
            "evidence": [
                {
                    "id": "0111994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48551-1",
            "uniprot_ac": "P48551",
            "uniprot_id": "INAR2_HUMAN",
            "refseq_ac": "NP_000865",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon alpha/beta receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "IFN-R-2",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha binding protein",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha/beta receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "IFNalpha/beta receptor subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Interferon alpha binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Type I interferon receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "human interferon alpha/beta receptor",
                    "type": "synonym"
                },
                {
                    "name": "interferon (alpha, beta and omega) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 2 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon-alpha/beta receptor beta chain",
                    "type": "synonym"
                },
                {
                    "name": "type I interferon receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFNAR2",
                    "type": "recommended"
                },
                {
                    "name": "IFN-R-2",
                    "type": "synonym"
                },
                {
                    "name": "IFN-R",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha-REC",
                    "type": "synonym"
                },
                {
                    "name": "IFNABR",
                    "type": "synonym"
                },
                {
                    "name": "IFNAR2",
                    "type": "synonym"
                },
                {
                    "name": "IFNARB",
                    "type": "synonym"
                },
                {
                    "name": "IMD45",
                    "type": "synonym"
                }
            ],
            "record_id": "P48551-1",
            "evidence": [
                {
                    "id": "616669",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616669"
                },
                {
                    "id": "0111994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R8H7-1",
            "uniprot_ac": "M0R8H7",
            "uniprot_id": "M0R8H7_RAT",
            "refseq_ac": "NP_001413919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon alpha/beta receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "Type I interferon receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon (alpha, beta and omega) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifnar2",
                    "type": "recommended"
                },
                {
                    "name": "Ifnar2",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R8H7-1",
            "evidence": [
                {
                    "id": "0111994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111994"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111994"
}