{
    "disease_id": "DOID:0080594",
    "recommended_name": {
        "id": "DOID:0080594",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080594",
        "name": "hyper IgE recurrent infection syndrome 2",
        "description": "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0080594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080594",
            "name": "autosomal recessive hyper-IgE syndrome 2 with recurrent infections",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "combined immunodeficiency due to DOCK8 deficiency",
            "description": "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "Cid due to DOCK8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "DOCK8 immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "combined immunodeficiency due to DOCK8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "dedicator of cytokinesis 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "AR hyperimmunoglobulin E syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "AR-HIES",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "DOCK8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "HIES autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "autosomal recessive hyper IgE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "hyper Ig E syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "name": "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:243700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243700",
            "name": "Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections",
            "description": "Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080594"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080594",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080594",
            "categories": []
        },
        {
            "id": "MONDO:0009478",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009478",
            "categories": []
        },
        {
            "id": "MIM:243700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/243700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QJ79-1",
            "uniprot_ac": "F1QJ79",
            "uniprot_id": "F1QJ79_DANRE",
            "refseq_ac": "XP_001920107",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 8 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 8 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dock8",
                    "type": "recommended"
                },
                {
                    "name": "dock8",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QJ79-1",
            "evidence": [
                {
                    "id": "0080594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C147-1",
            "uniprot_ac": "Q8C147",
            "uniprot_id": "DOCK8_MOUSE",
            "refseq_ac": "NP_083061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 8",
                    "type": "recommended"
                },
                {
                    "name": "dedicator of cytokinesis protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dock8",
                    "type": "recommended"
                },
                {
                    "name": "1200017A24Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830472H07Rik",
                    "type": "synonym"
                },
                {
                    "name": "A130095G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dock8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C147-1",
            "evidence": [
                {
                    "id": "0080594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080594"
                }
            ]
        },
        {
            "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": "243700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/243700"
                },
                {
                    "id": "0080594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A829-1",
            "uniprot_ac": "A0A8I6A829",
            "uniprot_id": "A0A8I6A829_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dock8",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6A829-1",
            "evidence": [
                {
                    "id": "0080594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPI9-1",
            "uniprot_ac": "Q9VPI9",
            "uniprot_id": "Q9VPI9_DROME",
            "refseq_ac": "NP_608489",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11376-PA",
                    "type": "synonym"
                },
                {
                    "name": "Zir-PA",
                    "type": "synonym"
                },
                {
                    "name": "Zizimin-related",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zir",
                    "type": "recommended"
                },
                {
                    "name": "CG11376",
                    "type": "synonym"
                },
                {
                    "name": "Dm zir",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11376",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11376",
                    "type": "synonym"
                },
                {
                    "name": "FBgn 31216",
                    "type": "synonym"
                },
                {
                    "name": "Zir",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPI9-1",
            "evidence": [
                {
                    "id": "0080594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080594"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080594"
}