{
    "disease_id": "DOID:0061163",
    "recommended_name": {
        "id": "DOID:0061163",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061163",
        "name": "infantile onset multisystem autoimmune disease 4",
        "description": "An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0975847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975847",
            "name": "autoimmune disease with susceptibility to mycobacterium tuberculosis",
            "description": ""
        },
        {
            "id": "MIM:621004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621004",
            "name": "Autoimmune disease, multisystem, infantile-onset, 4",
            "description": "Autoimmune disease, multisystem, infantile-onset, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061163"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061163",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061163",
            "categories": []
        },
        {
            "id": "MONDO:0975847",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975847",
            "categories": []
        },
        {
            "id": "MIM:621004",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621004",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q02242-1",
            "uniprot_ac": "Q02242",
            "uniprot_id": "PDCD1_MOUSE",
            "refseq_ac": "NP_032824",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein PD-1",
                    "type": "synonym"
                },
                {
                    "name": "mPD-1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein PD-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdcd1",
                    "type": "recommended"
                },
                {
                    "name": "Ly101",
                    "type": "synonym"
                },
                {
                    "name": "PD-1",
                    "type": "synonym"
                },
                {
                    "name": "Pd1",
                    "type": "synonym"
                },
                {
                    "name": "Pdc1",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02242-1",
            "evidence": [
                {
                    "id": "0061163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15116-1",
            "uniprot_ac": "Q15116",
            "uniprot_id": "PDCD1_HUMAN",
            "refseq_ac": "NP_005009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein PD-1",
                    "type": "synonym"
                },
                {
                    "name": "hPD-1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein PD-1",
                    "type": "synonym"
                },
                {
                    "name": "systemic lupus erythematosus susceptibility 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDCD1",
                    "type": "recommended"
                },
                {
                    "name": "ADMIO4",
                    "type": "synonym"
                },
                {
                    "name": "AIMTBS",
                    "type": "synonym"
                },
                {
                    "name": "CD279",
                    "type": "synonym"
                },
                {
                    "name": "PD-1",
                    "type": "synonym"
                },
                {
                    "name": "PD1",
                    "type": "synonym"
                },
                {
                    "name": "PDCD1",
                    "type": "synonym"
                },
                {
                    "name": "SLEB2",
                    "type": "synonym"
                },
                {
                    "name": "hPD-1",
                    "type": "synonym"
                },
                {
                    "name": "hPD-l",
                    "type": "synonym"
                },
                {
                    "name": "hSLE1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15116-1",
            "evidence": [
                {
                    "id": "621004",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621004"
                },
                {
                    "id": "0061163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIN8-1",
            "uniprot_ac": "D3ZIN8",
            "uniprot_id": "D3ZIN8_RAT",
            "refseq_ac": "NP_001100397",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 1",
                    "type": "recommended"
                },
                {
                    "name": "programmed cell death protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdcd1",
                    "type": "recommended"
                },
                {
                    "name": "Pdcd1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZIN8-1",
            "evidence": [
                {
                    "id": "0061163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061163"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061163"
}