{
    "disease_id": "DOID:0112005",
    "recommended_name": {
        "id": "DOID:0112005",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112005",
        "name": "immunodeficiency 70",
        "description": "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112005",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112005",
            "name": "IMD70",
            "description": ""
        },
        {
            "id": "MONDO:0033542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033542",
            "name": "immunodeficiency 70",
            "description": ""
        },
        {
            "id": "MONDO:0033542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033542",
            "name": "IMD70",
            "description": ""
        },
        {
            "id": "MONDO:0033542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033542",
            "name": "IMMUNODEFICIENCY 70",
            "description": ""
        },
        {
            "id": "MIM:618969",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618969",
            "name": "Immunodeficiency 70",
            "description": "Immunodeficiency 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112005"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112005",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112005",
            "categories": []
        },
        {
            "id": "MONDO:0033542",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033542",
            "categories": []
        },
        {
            "id": "MIM:618969",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618969",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q920Q8-1",
            "uniprot_ac": "Q920Q8",
            "uniprot_id": "NS1BP_MOUSE",
            "refseq_ac": "NP_001034600",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Influenza virus NS1A-binding protein homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Kelch family protein Nd1-L",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ND1-L2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1-BP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1-binding protein homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Nd1-S",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "influenza virus NS1A-binding protein homolog isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "influenza virus NS1A-binding protein homolog; kelch family protein Nd1; ND1-L2; kelch family protein Nd1-L; NS1-binding protein homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ivns1abp",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1190004M08Rik; 1700126I16Rik; HSPC068; mKIAA0850; ND1; Nd1-L; Nd1-S; NS-1; NS1-BP",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ivns1abp",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0850",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Nd1L",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Nd1S",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Nd1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ns1bp",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ns1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6Y0-1",
            "uniprot_ac": "Q9Y6Y0",
            "uniprot_id": "NS1BP_HUMAN",
            "refseq_ac": "NP_006460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Influenza virus NS1A-binding protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Aryl hydrocarbon receptor-associated protein 3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Kelch-like protein 39",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1-BP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1-binding protein; NCX downstream gene 1; aryl hydrocarbon receptor-associated 3; aryl hydrocarbon receptor-associated protein 3; kelch-like family member 39; kelch-like protein 39",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "NS1-binding protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "influenza virus NS1A-binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IVNS1ABP",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ARA3; FLARA3; HSPC068; IMD70; KLHL39; ND1; NS-1; NS1-BP; NS1BP",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ARA3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "FLARA3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HSPC068",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IVNS1ABP",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0850",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KLHL39",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1BP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112005"
                },
                {
                    "id": "618969",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZVQ8-1",
            "uniprot_ac": "Q7ZVQ8",
            "uniprot_id": "NS1BB_DANRE",
            "refseq_ac": "NP_958891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Influenza virus NS1A-binding protein homolog B",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "NS1-BP homolog B; NS1-binding protein homolog B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "NS1-BP homolog B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1-binding protein homolog B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "influenza virus NS1A-binding protein homolog B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ivns1abpb",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "fi13f08; fi41c09; wu:fi13f08; wu:fi41c09",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ivns1abpb",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RG82-1",
            "uniprot_ac": "Q5RG82",
            "uniprot_id": "NS1BA_DANRE",
            "refseq_ac": "NP_954973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Influenza virus NS1A-binding protein homolog A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "NS1-BP homolog A; NS1-binding protein homolog A; wz2894",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "NS1-BP homolog A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NS1-binding protein homolog A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "influenza virus NS1A-binding protein homolog A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ivns1abpa",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "cb1052; fj23g11; ivns1abp; wu:fj23g11",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ivns1abpa",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-11g8.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K427-1",
            "uniprot_ac": "A0A0G2K427",
            "uniprot_id": "A0A0G2K427_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Influenza virus NS1A binding protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ivns1abp",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0112005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112005"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112005"
}