{
    "disease_id": "DOID:0061075",
    "recommended_name": {
        "id": "DOID:0061075",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061075",
        "name": "immunodeficiency 106",
        "description": "A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0030970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030970",
            "name": "immunodeficiency 106, susceptibility to viral infections",
            "description": ""
        },
        {
            "id": "MONDO:0030970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030970",
            "name": "IFNAR1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030970",
            "name": "IMD106",
            "description": ""
        },
        {
            "id": "MONDO:0030970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030970",
            "name": "immunodeficiency 106, susceptibility to viral infections",
            "description": ""
        },
        {
            "id": "MIM:619935",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619935",
            "name": "Immunodeficiency 106, susceptibility to viral infections",
            "description": "Immunodeficiency 106, susceptibility to viral infections"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061075"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061075",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061075",
            "categories": []
        },
        {
            "id": "MONDO:0030970",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030970",
            "categories": []
        },
        {
            "id": "MIM:619935",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619935",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P33896-1",
            "uniprot_ac": "P33896",
            "uniprot_id": "INAR1_MOUSE",
            "refseq_ac": "NP_034638",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "IFN-R-1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha/beta receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha/betaR",
                    "type": "synonym"
                },
                {
                    "name": "INF-a receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type I interferon receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "type I interferon receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifnar1",
                    "type": "recommended"
                },
                {
                    "name": "Ifar",
                    "type": "synonym"
                },
                {
                    "name": "Ifnar1",
                    "type": "synonym"
                },
                {
                    "name": "Ifnar",
                    "type": "synonym"
                },
                {
                    "name": "Ifrc",
                    "type": "synonym"
                },
                {
                    "name": "Infar",
                    "type": "synonym"
                }
            ],
            "record_id": "P33896-1",
            "evidence": [
                {
                    "id": "0061075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17181-1",
            "uniprot_ac": "P17181",
            "uniprot_id": "INAR1_HUMAN",
            "refseq_ac": "NP_000620",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CRF2-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytokine receptor class-II member 1",
                    "type": "synonym"
                },
                {
                    "name": "Cytokine receptor family 2 member 1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-R-1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha/beta receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "IFNalpha/beta receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Type I interferon receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-type antiviral protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-type antiviral protein",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor class-II member 1",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor family 2 member 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon (alpha, beta and omega) receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon-alpha/beta receptor alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "interferon-beta receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "type I interferon receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFNAR1",
                    "type": "recommended"
                },
                {
                    "name": "AVP",
                    "type": "synonym"
                },
                {
                    "name": "CRF2-1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-R-1",
                    "type": "synonym"
                },
                {
                    "name": "IFN-alpha-REC",
                    "type": "synonym"
                },
                {
                    "name": "IFNAR1",
                    "type": "synonym"
                },
                {
                    "name": "IFNAR",
                    "type": "synonym"
                },
                {
                    "name": "IFNBR",
                    "type": "synonym"
                },
                {
                    "name": "IFRC",
                    "type": "synonym"
                },
                {
                    "name": "IMD106",
                    "type": "synonym"
                }
            ],
            "record_id": "P17181-1",
            "evidence": [
                {
                    "id": "619935",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619935"
                },
                {
                    "id": "0061075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDS9-1",
            "uniprot_ac": "D3ZDS9",
            "uniprot_id": "D3ZDS9_RAT",
            "refseq_ac": "XP_063126497",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Type I interferon receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon alpha/beta receptor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifnar1",
                    "type": "recommended"
                },
                {
                    "name": "Ifnar1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDS9-1",
            "evidence": [
                {
                    "id": "0061075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061075"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061075"
}