{
    "disease_id": "DOID:0081135",
    "recommended_name": {
        "id": "DOID:0081135",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081135",
        "name": "agammaglobulinemia 2",
        "description": "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0013287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "name": "agammaglobulinemia 2, autosomal recessive",
            "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene."
        },
        {
            "id": "MONDO:0013287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "name": "AGM2",
            "description": ""
        },
        {
            "id": "MONDO:0013287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "name": "IGLL1 autosomal agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0013287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "name": "agammaglobulinemia 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "name": "agammaglobulinemia, autosomal recessive, due to IGLL1 defect",
            "description": ""
        },
        {
            "id": "MONDO:0013287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "name": "autosomal agammaglobulinemia caused by mutation in IGLL1",
            "description": ""
        },
        {
            "id": "MONDO:0013287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "name": "lambda 5 deficiency",
            "description": ""
        },
        {
            "id": "MIM:613500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613500",
            "name": "Agammaglobulinemia 2, autosomal recessive",
            "description": "Agammaglobulinemia 2, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081135"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081135",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081135",
            "categories": []
        },
        {
            "id": "MONDO:0013287",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013287",
            "categories": []
        },
        {
            "id": "MIM:613500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P20764-1",
            "uniprot_ac": "P20764",
            "uniprot_id": "IGLL1_MOUSE",
            "refseq_ac": "NP_001177254",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin lambda-like polypeptide 1",
                    "type": "recommended"
                },
                {
                    "name": "CD179 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Ig lambda-5",
                    "type": "synonym"
                },
                {
                    "name": "ig lambda-5",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin lambda chain 5",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin lambda-like polypeptide 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lambda 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igll1",
                    "type": "recommended"
                },
                {
                    "name": "Igl-5",
                    "type": "synonym"
                },
                {
                    "name": "Igll1",
                    "type": "synonym"
                },
                {
                    "name": "Igll",
                    "type": "synonym"
                },
                {
                    "name": "Lambda5",
                    "type": "synonym"
                }
            ],
            "record_id": "P20764-1",
            "evidence": [
                {
                    "id": "0081135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15814-1",
            "uniprot_ac": "P15814",
            "uniprot_id": "IGLL1_HUMAN",
            "refseq_ac": "NP_064455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin lambda-like polypeptide 1",
                    "type": "recommended"
                },
                {
                    "name": "CD179 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "CD179b antigen",
                    "type": "synonym"
                },
                {
                    "name": "Ig lambda-5",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin omega polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin-related protein 14.1",
                    "type": "synonym"
                },
                {
                    "name": "Pre-B lymphocyte-specific protein-2",
                    "type": "synonym"
                },
                {
                    "name": "ig lambda-5",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin lambda-like polypeptide 1 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin omega polypeptide chain",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-related 14.1 protein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-related protein 14.1",
                    "type": "synonym"
                },
                {
                    "name": "lambda5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGLL1",
                    "type": "recommended"
                },
                {
                    "name": "14.1",
                    "type": "synonym"
                },
                {
                    "name": "AGM2",
                    "type": "synonym"
                },
                {
                    "name": "CD179b",
                    "type": "synonym"
                },
                {
                    "name": "IGL1",
                    "type": "synonym"
                },
                {
                    "name": "IGL5",
                    "type": "synonym"
                },
                {
                    "name": "IGLJ14.1",
                    "type": "synonym"
                },
                {
                    "name": "IGLL1",
                    "type": "synonym"
                },
                {
                    "name": "IGLL",
                    "type": "synonym"
                },
                {
                    "name": "IGO",
                    "type": "synonym"
                },
                {
                    "name": "IGVPB",
                    "type": "synonym"
                },
                {
                    "name": "VPREB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P15814-1",
            "evidence": [
                {
                    "id": "613500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613500"
                },
                {
                    "id": "0081135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAM7-1",
            "uniprot_ac": "F1MAM7",
            "uniprot_id": "F1MAM7_RAT",
            "refseq_ac": "NP_001177270",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin lambda-like polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin lambda-like polypeptide 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin lambda-like polypeptide 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igll1",
                    "type": "recommended"
                },
                {
                    "name": "Igll1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAM7-1",
            "evidence": [
                {
                    "id": "0081135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081135"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081135"
}