{
    "disease_id": "DOID:0090110",
    "recommended_name": {
        "id": "DOID:0090110",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090110",
        "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",
        "description": "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "X-linked autoimmunity-allergic dysregulation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "Autoimmune enteropathy type 1",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "DMSD",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "IDDM-secretory diarrhea syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "IPEX",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "XLAAD",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "XPID",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "autoimmunity-immunodeficiency syndrome, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0090110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "name": "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",
            "description": "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "DMSD",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "IDDM-secretory diarrhea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "IDDM-secretory diarrhoea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "IPEX",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "X linked polyendocrinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "X-linked autoimmunity-allergic dysregulation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "XLAAD",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "XPID",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "autoimmune enteropathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "autoimmunity-immunodeficiency syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "immune dysfunction and diarrhea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "immune dysfunction and diarrhoea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "IDDM secretory diarrhea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "IDDM secretory diarrhoea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "IPEX syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "Iddm-secretory diarrhoea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "Immunodysregulation, polyendocrinopathy and enteropathy X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "autoimmunity-immunodeficiency syndrome X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
            "resource": "MONDO",
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            "name": "polyendocrinopathy, immune dysfunction and diarrhea X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010580",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "name": "polyendocrinopathy, immune dysfunction and diarrhoea X-linked",
            "description": ""
        },
        {
            "id": "MIM:304790",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304790",
            "name": "Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome",
            "description": "Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090110"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090110",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090110",
            "categories": []
        },
        {
            "id": "MONDO:0010580",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010580",
            "categories": []
        },
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            "database": "MIM",
            "url": "https://www.omim.org/entry/304790",
            "categories": []
        }
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            "uniprot_ac": "F1QJ79",
            "uniprot_id": "F1QJ79_DANRE",
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                    "common_name": "Zebrafish",
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                }
            ],
            "protein_names": [
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                    "name": "Dedicator of cytokinesis protein 8 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 8 isoform X1",
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                }
            ],
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                    "name": "dock8",
                    "type": "recommended"
                },
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                    "name": "Forkhead box protein P3 isoform X1",
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                    "name": "forkhead box protein P3 isoform X1",
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            "refseq_ac": "NP_001186276",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
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            ],
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                    "name": "scurfy",
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            ],
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "5830472H07Rik",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Forkhead box protein P3",
                    "type": "recommended"
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                    "name": "FOXP3delta7",
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                },
                {
                    "name": "Scurfin",
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                    "name": "forkhead box protein P3 isoform b",
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                    "name": "forkhead box protein P3",
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                    "name": "immune dysregulation, polyendocrinopathy, enteropathy, X-linked",
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                },
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                    "name": "IPEX",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "name": "Rattus norvegicus",
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            ],
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            "glycoprotein": "yes",
            "species": [
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Zizimin-related",
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                    "name": "anon-EST:Posey54",
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                    "id": "0090110",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K6N2-1",
            "uniprot_ac": "A0A0B4K6N2",
            "uniprot_id": "A0A0B4K6N2_DROME",
            "refseq_ac": "NP_001247011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43067-PC",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead box P, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "FoxP-PC",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box P, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box P",
                    "type": "synonym"
                },
                {
                    "name": "forkhead domain 85E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FoxP",
                    "type": "recommended"
                },
                {
                    "name": "CG16899",
                    "type": "synonym"
                },
                {
                    "name": "CG32937",
                    "type": "synonym"
                },
                {
                    "name": "CG43067",
                    "type": "synonym"
                },
                {
                    "name": "DmFoxP",
                    "type": "synonym"
                },
                {
                    "name": "Dmcg16899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43067",
                    "type": "synonym"
                },
                {
                    "name": "FoxP",
                    "type": "synonym"
                },
                {
                    "name": "dFoxP",
                    "type": "synonym"
                },
                {
                    "name": "fd85E",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K6N2-1",
            "evidence": [
                {
                    "id": "0090110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NF50-1",
            "uniprot_ac": "Q8NF50",
            "uniprot_id": "DOCK8_HUMAN",
            "refseq_ac": "NP_001177387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 8",
                    "type": "recommended"
                },
                {
                    "name": "1200017A24Rik",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 8",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 205",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOCK8",
                    "type": "recommended"
                },
                {
                    "name": "DOCK8",
                    "type": "synonym"
                },
                {
                    "name": "HEL-205",
                    "type": "synonym"
                },
                {
                    "name": "HIES2",
                    "type": "synonym"
                },
                {
                    "name": "MRD2",
                    "type": "synonym"
                },
                {
                    "name": "ZIR8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NF50-1",
            "evidence": [
                {
                    "id": "0090110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090110"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090110"
}