{
    "disease_id": "DOID:0060591",
    "recommended_name": {
        "id": "DOID:0060591",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060591",
        "name": "WHIM syndrome 1",
        "description": "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060591",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060591",
            "name": "WHIMS",
            "description": ""
        },
        {
            "id": "DOID:0060591",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060591",
            "name": "warts, hypogammaglobulinemia, infections, and myelokathexis",
            "description": ""
        },
        {
            "id": "DOID:0060591",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060591",
            "name": "warts-hypogammaglobulinemia-infections-myelokathexis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "WHIM syndrome 1",
            "description": "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)."
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "WHIM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "WHIM Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "WHIMS",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "WILM",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "Warts-infections-leukopenia-myelokatexis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:8000006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "name": "myelokathexis, isolated",
            "description": ""
        },
        {
            "id": "MIM:193670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193670",
            "name": "WHIM syndrome 1",
            "description": "WHIM syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060591"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060591",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060591",
            "categories": []
        },
        {
            "id": "MONDO:8000006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000006",
            "categories": []
        },
        {
            "id": "MIM:193670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70658-1",
            "uniprot_ac": "P70658",
            "uniprot_id": "CXCR4_MOUSE",
            "refseq_ac": "NP_034041",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "C-X-C chemokine receptor type 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "C-X-C chemokine receptor type 4",
                    "type": "synonym"
                },
                {
                    "name": "CXC-R4",
                    "type": "synonym"
                },
                {
                    "name": "CXCR-4",
                    "type": "synonym"
                },
                {
                    "name": "Fusin",
                    "type": "synonym"
                },
                {
                    "name": "LESTR",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte-derived seven transmembrane domain receptor",
                    "type": "synonym"
                },
                {
                    "name": "PB-CKR",
                    "type": "synonym"
                },
                {
                    "name": "Pre-B-cell-derived chemokine receptor",
                    "type": "synonym"
                },
                {
                    "name": "SDF-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Stromal cell-derived factor 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C motif) receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C) receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "chemokine receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "fusin",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte-derived seven transmembrane domain receptor",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte-expressed seven-transmembrane-domain",
                    "type": "synonym"
                },
                {
                    "name": "pre-B-cell-derived chemokine receptor",
                    "type": "synonym"
                },
                {
                    "name": "stromal cell-derived factor 1 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cxcr4",
                    "type": "recommended"
                },
                {
                    "name": "CD184",
                    "type": "synonym"
                },
                {
                    "name": "CXC-R4",
                    "type": "synonym"
                },
                {
                    "name": "CXCR-4",
                    "type": "synonym"
                },
                {
                    "name": "Cmkar4",
                    "type": "synonym"
                },
                {
                    "name": "Cxcr4",
                    "type": "synonym"
                },
                {
                    "name": "LESTR",
                    "type": "synonym"
                },
                {
                    "name": "Lestr",
                    "type": "synonym"
                },
                {
                    "name": "PB-CKR",
                    "type": "synonym"
                },
                {
                    "name": "PBSF/SDF-1",
                    "type": "synonym"
                },
                {
                    "name": "Sdf1r",
                    "type": "synonym"
                },
                {
                    "name": "b2b220Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "P70658-1",
            "evidence": [
                {
                    "id": "0060591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060591"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61073-1",
            "uniprot_ac": "P61073",
            "uniprot_id": "CXCR4_HUMAN",
            "refseq_ac": "NP_001008540",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "C-X-C chemokine receptor type 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "C-X-C chemokine receptor type 4",
                    "type": "synonym"
                },
                {
                    "name": "CD184 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CXC-R4",
                    "type": "synonym"
                },
                {
                    "name": "CXCR-4",
                    "type": "synonym"
                },
                {
                    "name": "FB22",
                    "type": "synonym"
                },
                {
                    "name": "Fusin",
                    "type": "synonym"
                },
                {
                    "name": "HM89",
                    "type": "synonym"
                },
                {
                    "name": "LAP-3",
                    "type": "synonym"
                },
                {
                    "name": "LCR1",
                    "type": "synonym"
                },
                {
                    "name": "LESTR",
                    "type": "synonym"
                },
                {
                    "name": "LPS-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte-derived seven transmembrane domain receptor",
                    "type": "synonym"
                },
                {
                    "name": "Lipopolysaccharide-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "NPYRL",
                    "type": "synonym"
                },
                {
                    "name": "SDF-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Stromal cell-derived factor 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C motif) receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "fusin",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte-derived seven transmembrane domain receptor",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "neuropeptide Y receptor Y3",
                    "type": "synonym"
                },
                {
                    "name": "neuropeptide Y3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "seven transmembrane helix receptor",
                    "type": "synonym"
                },
                {
                    "name": "seven-transmembrane-segment receptor, spleen",
                    "type": "synonym"
                },
                {
                    "name": "stromal cell-derived factor 1 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CXCR4",
                    "type": "recommended"
                },
                {
                    "name": "CD184",
                    "type": "synonym"
                },
                {
                    "name": "CXCR4",
                    "type": "synonym"
                },
                {
                    "name": "D2S201E",
                    "type": "synonym"
                },
                {
                    "name": "FB22",
                    "type": "synonym"
                },
                {
                    "name": "HM89",
                    "type": "synonym"
                },
                {
                    "name": "HSY3RR",
                    "type": "synonym"
                },
                {
                    "name": "LCR1",
                    "type": "synonym"
                },
                {
                    "name": "LESTR",
                    "type": "synonym"
                },
                {
                    "name": "NPY3R",
                    "type": "synonym"
                },
                {
                    "name": "NPYRL",
                    "type": "synonym"
                },
                {
                    "name": "NPYR",
                    "type": "synonym"
                },
                {
                    "name": "NPYY3R",
                    "type": "synonym"
                },
                {
                    "name": "WHIMS1",
                    "type": "synonym"
                },
                {
                    "name": "WHIMS",
                    "type": "synonym"
                },
                {
                    "name": "WHIM",
                    "type": "synonym"
                }
            ],
            "record_id": "P61073-1",
            "evidence": [
                {
                    "id": "193670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/193670"
                },
                {
                    "id": "0060591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060591"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08565-1",
            "uniprot_ac": "O08565",
            "uniprot_id": "CXCR4_RAT",
            "refseq_ac": "NP_071541",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "C-X-C chemokine receptor type 4",
                    "type": "synonym"
                },
                {
                    "name": "CXC chemokine receptor",
                    "type": "synonym"
                },
                {
                    "name": "CXC-R4",
                    "type": "synonym"
                },
                {
                    "name": "CXCR-4",
                    "type": "synonym"
                },
                {
                    "name": "Fusin",
                    "type": "synonym"
                },
                {
                    "name": "LESTR",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte-derived seven transmembrane domain receptor",
                    "type": "synonym"
                },
                {
                    "name": "SDF-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Stromal cell-derived factor 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-X-C motif) receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "chemokine receptor (LCR1)",
                    "type": "synonym"
                },
                {
                    "name": "fusin",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte-derived seven transmembrane domain receptor",
                    "type": "synonym"
                },
                {
                    "name": "stromal cell-derived factor 1 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cxcr4",
                    "type": "recommended"
                },
                {
                    "name": "Cmkar4",
                    "type": "synonym"
                },
                {
                    "name": "Cxcr4",
                    "type": "synonym"
                }
            ],
            "record_id": "O08565-1",
            "evidence": [
                {
                    "id": "0060591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060591"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06494-1",
            "uniprot_ac": "P06494",
            "uniprot_id": "ERBB2_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": "Receptor tyrosine-protein kinase erbB-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor receptor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene Neu",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-ErbB-2",
                    "type": "synonym"
                },
                {
                    "name": "p185erbB2",
                    "type": "synonym"
                },
                {
                    "name": "p185neu",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erbb2",
                    "type": "recommended"
                },
                {
                    "name": "Neu",
                    "type": "synonym"
                }
            ],
            "record_id": "P06494-1",
            "evidence": [
                {
                    "id": "0060591",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060591"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060591"
}