{
    "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": []
}