{
    "disease_id": "DOID:0111951",
    "recommended_name": {
        "id": "DOID:0111951",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111951",
        "name": "immunodeficiency 40",
        "description": "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111951",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111951",
            "name": "DOCK2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111951",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111951",
            "name": "IMD40",
            "description": ""
        },
        {
            "id": "MONDO:0014637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014637",
            "name": "DOCK2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014637",
            "name": "immunodeficiency type 40",
            "description": ""
        },
        {
            "id": "MONDO:0014637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014637",
            "name": "IMD40",
            "description": ""
        },
        {
            "id": "MONDO:0014637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014637",
            "name": "immunodeficiency 40",
            "description": ""
        },
        {
            "id": "MIM:616433",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616433",
            "name": "Immunodeficiency 40",
            "description": "Immunodeficiency 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111951"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111951",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111951",
            "categories": []
        },
        {
            "id": "MONDO:0014637",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014637",
            "categories": []
        },
        {
            "id": "MIM:616433",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616433",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C3J5-1",
            "uniprot_ac": "Q8C3J5",
            "uniprot_id": "DOCK2_MOUSE",
            "refseq_ac": "NP_203538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Protein Hch",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dock2",
                    "type": "recommended"
                },
                {
                    "name": "CED-5",
                    "type": "synonym"
                },
                {
                    "name": "Dock2",
                    "type": "synonym"
                },
                {
                    "name": "Hch",
                    "type": "synonym"
                },
                {
                    "name": "MBC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C3J5-1",
            "evidence": [
                {
                    "id": "0111951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92608-1",
            "uniprot_ac": "Q92608",
            "uniprot_id": "DOCK2_HUMAN",
            "refseq_ac": "NP_004937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 2",
                    "type": "recommended"
                },
                {
                    "name": "dedicator of cyto-kinesis 2",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOCK2",
                    "type": "recommended"
                },
                {
                    "name": "DOCK2",
                    "type": "synonym"
                },
                {
                    "name": "IMD40",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0209",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92608-1",
            "evidence": [
                {
                    "id": "616433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616433"
                },
                {
                    "id": "0111951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06409-1",
            "uniprot_ac": "Q06409",
            "uniprot_id": "DCK1_YEAST",
            "refseq_ac": "NP_013526",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DOCK-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide exchange factor DCK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCK1",
                    "type": "recommended"
                },
                {
                    "name": "DCK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06409-1",
            "evidence": [
                {
                    "id": "0111951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZRT6-1",
            "uniprot_ac": "A0A8I5ZRT6",
            "uniprot_id": "A0A8I5ZRT6_RAT",
            "refseq_ac": "NP_001406875",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis 2",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dock2",
                    "type": "recommended"
                },
                {
                    "name": "AABR07029272.1",
                    "type": "synonym"
                },
                {
                    "name": "Dock2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZRT6-1",
            "evidence": [
                {
                    "id": "0111951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15800-1",
            "uniprot_ac": "P15800",
            "uniprot_id": "LAMB2_RAT",
            "refseq_ac": "NP_037106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Laminin chain B3",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-11 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-14 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-15 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-7 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-9 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "S-LAM beta",
                    "type": "synonym"
                },
                {
                    "name": "S-laminin subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin chain B3",
                    "type": "synonym"
                },
                {
                    "name": "laminin chain beta 2",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin, beta 2",
                    "type": "synonym"
                },
                {
                    "name": "laminin-11 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-14 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-15 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-4 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-7 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "laminin-9 subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamb2",
                    "type": "recommended"
                },
                {
                    "name": "Lamb2",
                    "type": "synonym"
                },
                {
                    "name": "SLAM",
                    "type": "synonym"
                }
            ],
            "record_id": "P15800-1",
            "evidence": [
                {
                    "id": "0111951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K7Q6-1",
            "uniprot_ac": "A0A0B4K7Q6",
            "uniprot_id": "A0A0B4K7Q6_DROME",
            "refseq_ac": "NP_001247267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10379-PB",
                    "type": "synonym"
                },
                {
                    "name": "Myoblast city, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "mbc-PB",
                    "type": "synonym"
                },
                {
                    "name": "myoblast city, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "myoblast city",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mbc",
                    "type": "recommended"
                },
                {
                    "name": "CED-5",
                    "type": "synonym"
                },
                {
                    "name": "CG10379",
                    "type": "synonym"
                },
                {
                    "name": "DOCK180",
                    "type": "synonym"
                },
                {
                    "name": "Dm MBC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10379",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10379",
                    "type": "synonym"
                },
                {
                    "name": "Dock180",
                    "type": "synonym"
                },
                {
                    "name": "MBC/DOCK180",
                    "type": "synonym"
                },
                {
                    "name": "MBC",
                    "type": "synonym"
                },
                {
                    "name": "Mbc",
                    "type": "synonym"
                },
                {
                    "name": "Su(rac)1",
                    "type": "synonym"
                },
                {
                    "name": "dock180",
                    "type": "synonym"
                },
                {
                    "name": "mbc",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K7Q6-1",
            "evidence": [
                {
                    "id": "0111951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111951"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111951"
}