{
    "disease_id": "DOID:0060973",
    "recommended_name": {
        "id": "DOID:0060973",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060973",
        "name": "WHIM syndrome 2",
        "description": "An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0060973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060973",
            "name": "WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2",
            "description": ""
        },
        {
            "id": "MONDO:0030374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030374",
            "name": "WHIM syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0030374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030374",
            "name": "WHIMS2",
            "description": ""
        },
        {
            "id": "MIM:619407",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619407",
            "name": "WHIM syndrome 2",
            "description": "WHIM syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060973"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060973",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060973",
            "categories": []
        },
        {
            "id": "MONDO:0030374",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030374",
            "categories": []
        },
        {
            "id": "MIM:619407",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619407",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q8T9-1",
            "uniprot_ac": "F1Q8T9",
            "uniprot_id": "F1Q8T9_DANRE",
            "refseq_ac": "XP_068079779",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-X-C chemokine receptor type 2",
                    "type": "recommended"
                },
                {
                    "name": "C-X-C chemokine receptor type 1",
                    "type": "synonym"
                },
                {
                    "name": "High affinity interleukin-8 receptor B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cxcr2",
                    "type": "recommended"
                },
                {
                    "name": "cxcr2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q8T9-1",
            "evidence": [
                {
                    "id": "0060973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35343-1",
            "uniprot_ac": "P35343",
            "uniprot_id": "CXCR2_MOUSE",
            "refseq_ac": "NP_034039",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-X-C chemokine receptor type 2",
                    "type": "recommended"
                },
                {
                    "name": "C-X-C chemokine receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "CXC-R2",
                    "type": "synonym"
                },
                {
                    "name": "CXCR-2",
                    "type": "synonym"
                },
                {
                    "name": "GRO/MGSA receptor",
                    "type": "synonym"
                },
                {
                    "name": "High affinity interleukin-8 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "IL-8 receptor alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "IL-8R B",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C motif) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "high affinity interleukin-8 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 8 receptor, beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-8 receptor type B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cxcr2",
                    "type": "recommended"
                },
                {
                    "name": "CD128",
                    "type": "synonym"
                },
                {
                    "name": "CDw128",
                    "type": "synonym"
                },
                {
                    "name": "Cmkar2",
                    "type": "synonym"
                },
                {
                    "name": "Cxcr2",
                    "type": "synonym"
                },
                {
                    "name": "Gpcr16",
                    "type": "synonym"
                },
                {
                    "name": "IL-8Rh",
                    "type": "synonym"
                },
                {
                    "name": "IL-8rb",
                    "type": "synonym"
                },
                {
                    "name": "IL8RA",
                    "type": "synonym"
                },
                {
                    "name": "Il8rb",
                    "type": "synonym"
                },
                {
                    "name": "mIL-8RH",
                    "type": "synonym"
                }
            ],
            "record_id": "P35343-1",
            "evidence": [
                {
                    "id": "0060973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25025-1",
            "uniprot_ac": "P25025",
            "uniprot_id": "CXCR2_HUMAN",
            "refseq_ac": "NP_001161770",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-X-C chemokine receptor type 2",
                    "type": "recommended"
                },
                {
                    "name": "C-X-C chemokine receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "CDw128b",
                    "type": "synonym"
                },
                {
                    "name": "CXC-R2",
                    "type": "synonym"
                },
                {
                    "name": "CXCR-2",
                    "type": "synonym"
                },
                {
                    "name": "CXCR2 gene for IL8 receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "GRO/MGSA receptor",
                    "type": "synonym"
                },
                {
                    "name": "High affinity interleukin-8 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "IL-8 receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "IL-8R B",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (CXC) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "high affinity interleukin-8 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 8 receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 8 receptor, beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-8 receptor type B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CXCR2",
                    "type": "recommended"
                },
                {
                    "name": "CD182",
                    "type": "synonym"
                },
                {
                    "name": "CDw128b",
                    "type": "synonym"
                },
                {
                    "name": "CMKAR2",
                    "type": "synonym"
                },
                {
                    "name": "CXCR2",
                    "type": "synonym"
                },
                {
                    "name": "IL8R2",
                    "type": "synonym"
                },
                {
                    "name": "IL8RA",
                    "type": "synonym"
                },
                {
                    "name": "IL8RB",
                    "type": "synonym"
                },
                {
                    "name": "WHIMS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P25025-1",
            "evidence": [
                {
                    "id": "619407",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619407"
                },
                {
                    "id": "0060973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35407-1",
            "uniprot_ac": "P35407",
            "uniprot_id": "CXCR2_RAT",
            "refseq_ac": "NP_058879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-X-C chemokine receptor type 2",
                    "type": "recommended"
                },
                {
                    "name": "C-X-C chemokine receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "CXC-R2",
                    "type": "synonym"
                },
                {
                    "name": "CXCR-2",
                    "type": "synonym"
                },
                {
                    "name": "GRO/MGSA receptor",
                    "type": "synonym"
                },
                {
                    "name": "High affinity interleukin-8 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "IL-8R B",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C motif) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "high affinity interleukin-8 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 8 receptor, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cxcr2",
                    "type": "recommended"
                },
                {
                    "name": "Cmkar2",
                    "type": "synonym"
                },
                {
                    "name": "Cxcr2",
                    "type": "synonym"
                },
                {
                    "name": "Il8rb",
                    "type": "synonym"
                }
            ],
            "record_id": "P35407-1",
            "evidence": [
                {
                    "id": "0060973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P1A6-1",
            "uniprot_ac": "Q9P1A6",
            "uniprot_id": "DLGP2_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DAP-2",
                    "type": "synonym"
                },
                {
                    "name": "PSD-95/SAP90-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SAP90/PSD-95-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SAPAP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLGAP2",
                    "type": "recommended"
                },
                {
                    "name": "C8orf68",
                    "type": "synonym"
                },
                {
                    "name": "DAP2",
                    "type": "synonym"
                },
                {
                    "name": "ERICH1-AS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P1A6-1",
            "evidence": [
                {
                    "id": "0060973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060973"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060973"
}