{
    "disease_id": "DOID:0060546",
    "recommended_name": {
        "id": "DOID:0060546",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060546",
        "name": "Hermansky-Pudlak syndrome 8",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome 8",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene."
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "BLOC1S3 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "HPS8",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome type 8",
            "description": ""
        },
        {
            "id": "MIM:614077",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614077",
            "name": "Hermansky-Pudlak syndrome 8",
            "description": "Hermansky-Pudlak syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060546"
    ],
    "unlinked_id_list": []
}