{
    "disease_id": "DOID:0061082",
    "recommended_name": {
        "id": "DOID:0061082",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061082",
        "name": "immunodeficiency 116",
        "description": "A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0012161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012161",
            "name": "susceptibility to respiratory infections associated with CD8alpha chain mutation",
            "description": "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes."
        },
        {
            "id": "MONDO:0012161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012161",
            "name": "familial CD8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012161",
            "name": "susceptibility to respiratory infections associated with CD8alpha chain mutation",
            "description": ""
        },
        {
            "id": "MIM:608957",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608957",
            "name": "Immunodeficiency 116",
            "description": "Immunodeficiency 116"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061082"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061082",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061082",
            "categories": []
        },
        {
            "id": "MONDO:0012161",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012161",
            "categories": []
        },
        {
            "id": "MIM:608957",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608957",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P01731-1",
            "uniprot_ac": "P01731",
            "uniprot_id": "CD8A_MOUSE",
            "refseq_ac": "NP_001074579",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "CD8 antigen, alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "Lyt-2.1 lymphocyte differentiation antigen (AA at 100)",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein Lyt-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd8a",
                    "type": "recommended"
                },
                {
                    "name": "Cd8a",
                    "type": "synonym"
                },
                {
                    "name": "Ly-2",
                    "type": "synonym"
                },
                {
                    "name": "Ly-35",
                    "type": "synonym"
                },
                {
                    "name": "Ly-B",
                    "type": "synonym"
                },
                {
                    "name": "Lyt-2",
                    "type": "synonym"
                },
                {
                    "name": "Lyt2",
                    "type": "synonym"
                }
            ],
            "record_id": "P01731-1",
            "evidence": [
                {
                    "id": "0061082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01732-1",
            "uniprot_ac": "P01732",
            "uniprot_id": "CD8A_HUMAN",
            "refseq_ac": "NP_001139345",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "CD8 antigen, alpha polypeptide (p32)",
                    "type": "synonym"
                },
                {
                    "name": "CD8a molecule",
                    "type": "synonym"
                },
                {
                    "name": "Leu2 T-lymphocyte antigen",
                    "type": "synonym"
                },
                {
                    "name": "OKT8 T-cell antigen",
                    "type": "synonym"
                },
                {
                    "name": "T cell co-receptor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell antigen Leu2",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphocyte differentiation antigen T8/Leu-2",
                    "type": "synonym"
                },
                {
                    "name": "T8 T-cell antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD8A",
                    "type": "recommended"
                },
                {
                    "name": "CD8A",
                    "type": "synonym"
                },
                {
                    "name": "CD8alpha",
                    "type": "synonym"
                },
                {
                    "name": "CD8",
                    "type": "synonym"
                },
                {
                    "name": "IMD116",
                    "type": "synonym"
                },
                {
                    "name": "Leu2",
                    "type": "synonym"
                },
                {
                    "name": "MAL",
                    "type": "synonym"
                },
                {
                    "name": "p32",
                    "type": "synonym"
                }
            ],
            "record_id": "P01732-1",
            "evidence": [
                {
                    "id": "608957",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608957"
                },
                {
                    "id": "0061082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07725-1",
            "uniprot_ac": "P07725",
            "uniprot_id": "CD8A_RAT",
            "refseq_ac": "NP_113726",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "CD8 antigen 32 kDa chain",
                    "type": "synonym"
                },
                {
                    "name": "CD8 antigen, alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "CD8a molecule",
                    "type": "synonym"
                },
                {
                    "name": "OX-8 membrane antigen",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD8 alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd8a",
                    "type": "recommended"
                },
                {
                    "name": "Cd8a",
                    "type": "synonym"
                }
            ],
            "record_id": "P07725-1",
            "evidence": [
                {
                    "id": "0061082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75131-1",
            "uniprot_ac": "O75131",
            "uniprot_id": "CPNE3_HUMAN",
            "refseq_ac": "NP_003900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Copine-3",
                    "type": "recommended"
                },
                {
                    "name": "Copine III",
                    "type": "synonym"
                },
                {
                    "name": "copine III",
                    "type": "synonym"
                },
                {
                    "name": "copine-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPNE3",
                    "type": "recommended"
                },
                {
                    "name": "CPN3",
                    "type": "synonym"
                },
                {
                    "name": "CPNE3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0636",
                    "type": "synonym"
                },
                {
                    "name": "PRO1071",
                    "type": "synonym"
                }
            ],
            "record_id": "O75131-1",
            "evidence": [
                {
                    "id": "0061082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061082"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061082"
}