{
    "disease_id": "DOID:0111981",
    "recommended_name": {
        "id": "DOID:0111981",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111981",
        "name": "immunodeficiency 43",
        "description": "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111981",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111981",
            "name": "B2M deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111981",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111981",
            "name": "IMD43",
            "description": ""
        },
        {
            "id": "DOID:0111981",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111981",
            "name": "beta-2-microglobulin deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111981",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111981",
            "name": "hypercatabolic hypoproteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0009434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009434",
            "name": "hypoproteinemia, hypercatabolic",
            "description": ""
        },
        {
            "id": "MONDO:0009434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009434",
            "name": "hypoproteinemia, hypercatabolic",
            "description": ""
        },
        {
            "id": "MONDO:0009434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009434",
            "name": "IMD43",
            "description": ""
        },
        {
            "id": "MIM:241600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241600",
            "name": "Immunodeficiency 43",
            "description": "Immunodeficiency 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111981"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111981",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111981",
            "categories": []
        },
        {
            "id": "MONDO:0009434",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009434",
            "categories": []
        },
        {
            "id": "MIM:241600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/241600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q04475-1",
            "uniprot_ac": "Q04475",
            "uniprot_id": "B2MG_DANRE",
            "refseq_ac": "NP_001153240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-2-microglobulin",
                    "type": "recommended"
                },
                {
                    "name": "beta-2-microglobulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "b2m",
                    "type": "recommended"
                },
                {
                    "name": "b2m",
                    "type": "synonym"
                },
                {
                    "name": "bwm",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa94c05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb10a09",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04475-1",
            "evidence": [
                {
                    "id": "0111981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32U1V9-1",
            "uniprot_ac": "A0AB32U1V9",
            "uniprot_id": "A0AB32U1V9_DANRE",
            "refseq_ac": "NP_001091732",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-2-microglobulin",
                    "type": "recommended"
                },
                {
                    "name": "major histocompatibility complex, class II alpha chain, WA_01",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex, class II alpha chain, WA_02",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex, class II alpha chain, WA_03",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex, class II alpha chain, WA_04",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex, class II beta chain, WB_05",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC100002901 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zmp:0000001138",
                    "type": "recommended"
                },
                {
                    "name": "WA_01",
                    "type": "synonym"
                },
                {
                    "name": "WA_02",
                    "type": "synonym"
                },
                {
                    "name": "WA_03",
                    "type": "synonym"
                },
                {
                    "name": "WA_04",
                    "type": "synonym"
                },
                {
                    "name": "WA_05",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000001138",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U1V9-1",
            "evidence": [
                {
                    "id": "0111981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01887-1",
            "uniprot_ac": "P01887",
            "uniprot_id": "B2MG_MOUSE",
            "refseq_ac": "NP_033865",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-2-microglobulin",
                    "type": "recommended"
                },
                {
                    "name": "beta-2-microglobulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B2m",
                    "type": "recommended"
                },
                {
                    "name": "B2m",
                    "type": "synonym"
                },
                {
                    "name": "Ly-m11",
                    "type": "synonym"
                },
                {
                    "name": "beta2-m",
                    "type": "synonym"
                },
                {
                    "name": "beta2m",
                    "type": "synonym"
                }
            ],
            "record_id": "P01887-1",
            "evidence": [
                {
                    "id": "0111981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61769-1",
            "uniprot_ac": "P61769",
            "uniprot_id": "B2MG_HUMAN",
            "refseq_ac": "NP_004039",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-2-microglobulin",
                    "type": "recommended"
                },
                {
                    "name": "beta chain of MHC class I molecules",
                    "type": "synonym"
                },
                {
                    "name": "beta-2-microglobin",
                    "type": "synonym"
                },
                {
                    "name": "beta-2-microglobulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B2M",
                    "type": "recommended"
                },
                {
                    "name": "AMYLD6",
                    "type": "synonym"
                },
                {
                    "name": "B2M",
                    "type": "synonym"
                },
                {
                    "name": "CDABP0092",
                    "type": "synonym"
                },
                {
                    "name": "HDCMA22P",
                    "type": "synonym"
                },
                {
                    "name": "IMD43",
                    "type": "synonym"
                },
                {
                    "name": "MHC1D4",
                    "type": "synonym"
                }
            ],
            "record_id": "P61769-1",
            "evidence": [
                {
                    "id": "241600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/241600"
                },
                {
                    "id": "0111981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07151-1",
            "uniprot_ac": "P07151",
            "uniprot_id": "B2MG_RAT",
            "refseq_ac": "NP_036644",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-2-microglobulin",
                    "type": "recommended"
                },
                {
                    "name": "beta-2-microglobulin C-terminal fragment (55 AA)",
                    "type": "synonym"
                },
                {
                    "name": "beta-2-microglobulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B2m",
                    "type": "recommended"
                },
                {
                    "name": "B2m",
                    "type": "synonym"
                }
            ],
            "record_id": "P07151-1",
            "evidence": [
                {
                    "id": "0111981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111981"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111981"
}