{
    "disease_id": "DOID:0051056",
    "recommended_name": {
        "id": "DOID:0051056",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051056",
        "name": "immunodeficiency 113",
        "description": "A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0957920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957920",
            "name": "immunodeficiency 113 with autoimmunity and autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:620565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620565",
            "name": "Immunodeficiency 113 with autoimmunity and autoinflammation",
            "description": "Immunodeficiency 113 with autoimmunity and autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051056"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051056",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051056",
            "categories": []
        },
        {
            "id": "MONDO:0957920",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957920",
            "categories": []
        },
        {
            "id": "MIM:620565",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620565",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CPW4-1",
            "uniprot_ac": "Q9CPW4",
            "uniprot_id": "ARPC5_MOUSE",
            "refseq_ac": "NP_080645",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-related protein 2/3 complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "Arp2/3 complex 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein 2/3 complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "arp2/3 complex 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p16-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arpc5",
                    "type": "recommended"
                },
                {
                    "name": "5830443F10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arpc5",
                    "type": "synonym"
                },
                {
                    "name": "p16-Arc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CPW4-1",
            "evidence": [
                {
                    "id": "0051056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15511-1",
            "uniprot_ac": "O15511",
            "uniprot_id": "ARPC5_HUMAN",
            "refseq_ac": "NP_001257368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-related protein 2/3 complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "Arp2/3 complex 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Arp2/3 protein complex subunit p16",
                    "type": "synonym"
                },
                {
                    "name": "actin related protein 2/3 complex, subunit 5, 16kDa",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein 2/3 complex subunit 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "arp2/3 complex 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p16-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARPC5",
                    "type": "recommended"
                },
                {
                    "name": "ARC16",
                    "type": "synonym"
                },
                {
                    "name": "ARPC5",
                    "type": "synonym"
                },
                {
                    "name": "IMD113",
                    "type": "synonym"
                },
                {
                    "name": "dJ127C7.3",
                    "type": "synonym"
                },
                {
                    "name": "p16-Arc",
                    "type": "synonym"
                }
            ],
            "record_id": "O15511-1",
            "evidence": [
                {
                    "id": "620565",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620565"
                },
                {
                    "id": "0051056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40518-1",
            "uniprot_ac": "P40518",
            "uniprot_id": "ARPC5_YEAST",
            "refseq_ac": "NP_012202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-related protein 2/3 complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "Arc15p",
                    "type": "synonym"
                },
                {
                    "name": "Arp2/3 complex 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p16-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARC15",
                    "type": "recommended"
                },
                {
                    "name": "ARC15",
                    "type": "synonym"
                }
            ],
            "record_id": "P40518-1",
            "evidence": [
                {
                    "id": "0051056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLF8-1",
            "uniprot_ac": "Q4KLF8",
            "uniprot_id": "ARPC5_RAT",
            "refseq_ac": "NP_001020888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-related protein 2/3 complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "Arp2/3 complex 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein 2/3 complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "arp2/3 complex 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p16-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arpc5",
                    "type": "recommended"
                },
                {
                    "name": "Arpc5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLF8-1",
            "evidence": [
                {
                    "id": "0051056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051056"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQD8-1",
            "uniprot_ac": "Q9VQD8",
            "uniprot_id": "Q9VQD8_DROME",
            "refseq_ac": "NP_001259945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-related protein 2/3 complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "Actin-related protein 2/3 complex, subunit 5, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Arpc5-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG9881-PB",
                    "type": "synonym"
                },
                {
                    "name": "p16-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arpc5",
                    "type": "recommended"
                },
                {
                    "name": "ARPC5",
                    "type": "synonym"
                },
                {
                    "name": "ArpC5",
                    "type": "synonym"
                },
                {
                    "name": "Arpc5",
                    "type": "synonym"
                },
                {
                    "name": "CG9881",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9881",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9881",
                    "type": "synonym"
                },
                {
                    "name": "P16-ARC",
                    "type": "synonym"
                },
                {
                    "name": "p16-ARC",
                    "type": "synonym"
                },
                {
                    "name": "p16-arc",
                    "type": "synonym"
                },
                {
                    "name": "p16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQD8-1",
            "evidence": [
                {
                    "id": "0051056",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051056"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051056"
}