{
    "disease_id": "DOID:0061164",
    "recommended_name": {
        "id": "DOID:0061164",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061164",
        "name": "infantile onset multisystem autoimmune disease 5",
        "description": "An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "MONDO:0979235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979235",
            "name": "autoimmune disease, multisystem, infantile-onset, 5",
            "description": ""
        },
        {
            "id": "MIM:621235",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621235",
            "name": "Autoimmune disease, multisystem, infantile-onset, 5",
            "description": "Autoimmune disease, multisystem, infantile-onset, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061164"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061164",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061164",
            "categories": []
        },
        {
            "id": "MONDO:0979235",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979235",
            "categories": []
        },
        {
            "id": "MIM:621235",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621235",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TBY4-1",
            "uniprot_ac": "A0AB32TBY4",
            "uniprot_id": "A0AB32TBY4_DANRE",
            "refseq_ac": "XP_068072052",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein si:ch211-241b2.5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein si:ch211-241b2.5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:ch211-241b2.5",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-241b2.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TBY4-1",
            "evidence": [
                {
                    "id": "0061164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EP73-1",
            "uniprot_ac": "Q9EP73",
            "uniprot_id": "PD1L1_MOUSE",
            "refseq_ac": "NP_068693",
            "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 1 ligand 1",
                    "type": "recommended"
                },
                {
                    "name": "B7 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "B7-H1",
                    "type": "synonym"
                },
                {
                    "name": "PD-L1",
                    "type": "synonym"
                },
                {
                    "name": "PDCD1 ligand 1",
                    "type": "synonym"
                },
                {
                    "name": "Programmed death ligand 1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 ligand 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 ligand 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd274",
                    "type": "recommended"
                },
                {
                    "name": "A530045L16Rik",
                    "type": "synonym"
                },
                {
                    "name": "B7h1",
                    "type": "synonym"
                },
                {
                    "name": "Cd274",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd1l1",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd1lg1",
                    "type": "synonym"
                },
                {
                    "name": "Pdl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EP73-1",
            "evidence": [
                {
                    "id": "0061164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZQ7-1",
            "uniprot_ac": "Q9NZQ7",
            "uniprot_id": "PD1L1_HUMAN",
            "refseq_ac": "NP_001254635",
            "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 1 ligand 1",
                    "type": "recommended"
                },
                {
                    "name": "B7 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "B7-H1",
                    "type": "synonym"
                },
                {
                    "name": "CD274 antigen",
                    "type": "synonym"
                },
                {
                    "name": "PD-L1",
                    "type": "synonym"
                },
                {
                    "name": "PDCD1 ligand 1",
                    "type": "synonym"
                },
                {
                    "name": "Programmed death ligand 1",
                    "type": "synonym"
                },
                {
                    "name": "hPD-L1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 ligand 1 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 ligand 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD274",
                    "type": "recommended"
                },
                {
                    "name": "ADMIO5",
                    "type": "synonym"
                },
                {
                    "name": "B7-H",
                    "type": "synonym"
                },
                {
                    "name": "B7H1",
                    "type": "synonym"
                },
                {
                    "name": "CD274",
                    "type": "synonym"
                },
                {
                    "name": "PD-L1",
                    "type": "synonym"
                },
                {
                    "name": "PDCD1L1",
                    "type": "synonym"
                },
                {
                    "name": "PDCD1LG1",
                    "type": "synonym"
                },
                {
                    "name": "PDL1",
                    "type": "synonym"
                },
                {
                    "name": "hPD-L1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZQ7-1",
            "evidence": [
                {
                    "id": "621235",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621235"
                },
                {
                    "id": "0061164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AE25-1",
            "uniprot_ac": "D4AE25",
            "uniprot_id": "D4AE25_RAT",
            "refseq_ac": "NP_001178883",
            "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 1 ligand 1",
                    "type": "recommended"
                },
                {
                    "name": "B7 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 ligand 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 1 ligand 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd274",
                    "type": "recommended"
                },
                {
                    "name": "Cd274",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd1lg1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566211",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AE25-1",
            "evidence": [
                {
                    "id": "0061164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061164"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061164"
}