{
    "disease_id": "DOID:0112004",
    "recommended_name": {
        "id": "DOID:0112004",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112004",
        "name": "immunodeficiency 71",
        "description": "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112004",
            "name": "IMD71",
            "description": ""
        },
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112004",
            "name": "PLTEID",
            "description": ""
        },
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112004",
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease",
            "description": ""
        },
        {
            "id": "DOID:0112004",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112004",
            "name": "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0060583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease",
            "description": ""
        },
        {
            "id": "MONDO:0060583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "name": "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0060583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "name": "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease",
            "description": ""
        },
        {
            "id": "MONDO:0060583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "name": "PLTEID",
            "description": ""
        },
        {
            "id": "MIM:617718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617718",
            "name": "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia",
            "description": "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112004"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112004",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112004",
            "categories": []
        },
        {
            "id": "MONDO:0060583",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060583",
            "categories": []
        },
        {
            "id": "MIM:617718",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617718",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WV32-1",
            "uniprot_ac": "Q9WV32",
            "uniprot_id": "ARC1B_MOUSE",
            "refseq_ac": "NP_075631",
            "glycoprotein": "yes",
            "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 1B",
                    "type": "recommended"
                },
                {
                    "name": "Arp2/3 complex 41 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein 2/3 complex subunit 1B",
                    "type": "synonym"
                },
                {
                    "name": "arp2/3 complex 41 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p41-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arpc1b",
                    "type": "recommended"
                },
                {
                    "name": "41kDa",
                    "type": "synonym"
                },
                {
                    "name": "Arpc1b",
                    "type": "synonym"
                },
                {
                    "name": "L72",
                    "type": "synonym"
                },
                {
                    "name": "SOP2Hs",
                    "type": "synonym"
                },
                {
                    "name": "p41-ARC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WV32-1",
            "evidence": [
                {
                    "id": "0112004",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15143-1",
            "uniprot_ac": "O15143",
            "uniprot_id": "ARC1B_HUMAN",
            "refseq_ac": "NP_005711",
            "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 1B",
                    "type": "recommended"
                },
                {
                    "name": "ARP2/3 protein complex subunit p41",
                    "type": "synonym"
                },
                {
                    "name": "Arp2/3 complex 41 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "actin related protein 2/3 complex, subunit 1B, 41kDa",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein 2/3 complex subunit 1B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "arp2/3 complex 41 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p41-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARPC1B",
                    "type": "recommended"
                },
                {
                    "name": "ARC41",
                    "type": "synonym"
                },
                {
                    "name": "ARPC1B",
                    "type": "synonym"
                },
                {
                    "name": "IMD71",
                    "type": "synonym"
                },
                {
                    "name": "PLTEID",
                    "type": "synonym"
                },
                {
                    "name": "p40-ARC",
                    "type": "synonym"
                },
                {
                    "name": "p41-ARC",
                    "type": "synonym"
                }
            ],
            "record_id": "O15143-1",
            "evidence": [
                {
                    "id": "617718",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617718"
                },
                {
                    "id": "0112004",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38328-1",
            "uniprot_ac": "P38328",
            "uniprot_id": "ARPC1_YEAST",
            "refseq_ac": "NP_009793",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Arc40p",
                    "type": "synonym"
                },
                {
                    "name": "Arp2/3 complex 41 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p41-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARC40",
                    "type": "recommended"
                },
                {
                    "name": "ARC40",
                    "type": "synonym"
                },
                {
                    "name": "YBR1532",
                    "type": "synonym"
                }
            ],
            "record_id": "P38328-1",
            "evidence": [
                {
                    "id": "0112004",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88656-1",
            "uniprot_ac": "O88656",
            "uniprot_id": "ARC1B_RAT",
            "refseq_ac": "NP_062162",
            "glycoprotein": "yes",
            "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 1B",
                    "type": "recommended"
                },
                {
                    "name": "Actin-related protein complex 1b",
                    "type": "synonym"
                },
                {
                    "name": "Arp2/3 complex 41 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein 2/3 complex subunit 1B",
                    "type": "synonym"
                },
                {
                    "name": "arp2/3 complex 41 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p41-ARC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arpc1b",
                    "type": "recommended"
                },
                {
                    "name": "Arpc1b",
                    "type": "synonym"
                },
                {
                    "name": "p41Arc",
                    "type": "synonym"
                }
            ],
            "record_id": "O88656-1",
            "evidence": [
                {
                    "id": "0112004",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O97182-1",
            "uniprot_ac": "O97182",
            "uniprot_id": "O97182_DROME",
            "refseq_ac": "NP_476596",
            "glycoprotein": "yes",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Actin-related protein 2/3 complex, subunit 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Arpc1-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG8978-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)34Dd",
                    "type": "synonym"
                },
                {
                    "name": "profilin 2",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of profilin 2",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arpc1",
                    "type": "recommended"
                },
                {
                    "name": "34Dd",
                    "type": "synonym"
                },
                {
                    "name": "ARC-P41",
                    "type": "synonym"
                },
                {
                    "name": "ARPC1/p41",
                    "type": "synonym"
                },
                {
                    "name": "ARPC1",
                    "type": "synonym"
                },
                {
                    "name": "Arc41",
                    "type": "synonym"
                },
                {
                    "name": "ArcP41",
                    "type": "synonym"
                },
                {
                    "name": "ArpC1",
                    "type": "synonym"
                },
                {
                    "name": "Arpc1",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS00941.7",
                    "type": "synonym"
                },
                {
                    "name": "CG8978",
                    "type": "synonym"
                },
                {
                    "name": "D-sop2",
                    "type": "synonym"
                },
                {
                    "name": "DSop2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8978",
                    "type": "synonym"
                },
                {
                    "name": "Dsop2",
                    "type": "synonym"
                },
                {
                    "name": "Sop2",
                    "type": "synonym"
                },
                {
                    "name": "Spo2",
                    "type": "synonym"
                },
                {
                    "name": "arc41",
                    "type": "synonym"
                },
                {
                    "name": "arpC1",
                    "type": "synonym"
                },
                {
                    "name": "arpc1",
                    "type": "synonym"
                },
                {
                    "name": "br32",
                    "type": "synonym"
                },
                {
                    "name": "l(2)34Dd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)Sop2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br32",
                    "type": "synonym"
                },
                {
                    "name": "p41",
                    "type": "synonym"
                },
                {
                    "name": "p42",
                    "type": "synonym"
                },
                {
                    "name": "sop2/arc41",
                    "type": "synonym"
                },
                {
                    "name": "sop2",
                    "type": "synonym"
                },
                {
                    "name": "sop",
                    "type": "synonym"
                }
            ],
            "record_id": "O97182-1",
            "evidence": [
                {
                    "id": "0112004",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51911-1",
            "uniprot_ac": "P51911",
            "uniprot_id": "CNN1_HUMAN",
            "refseq_ac": "NP_001290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calponin-1",
                    "type": "recommended"
                },
                {
                    "name": "Basic calponin",
                    "type": "synonym"
                },
                {
                    "name": "Calponin H1, smooth muscle",
                    "type": "synonym"
                },
                {
                    "name": "basic calponin",
                    "type": "synonym"
                },
                {
                    "name": "calponin 1, basic, smooth muscle",
                    "type": "synonym"
                },
                {
                    "name": "calponin H1, smooth muscle",
                    "type": "synonym"
                },
                {
                    "name": "calponin-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calponins, basic",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNN1",
                    "type": "recommended"
                },
                {
                    "name": "CNN1",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-14",
                    "type": "synonym"
                },
                {
                    "name": "SMCC",
                    "type": "synonym"
                },
                {
                    "name": "Sm-Calp",
                    "type": "synonym"
                }
            ],
            "record_id": "P51911-1",
            "evidence": [
                {
                    "id": "0112004",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112004"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112004"
}