{
    "disease_id": "DOID:0060539",
    "recommended_name": {
        "id": "DOID:0060539",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060539",
        "name": "Hermansky-Pudlak syndrome 1",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome 1",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene."
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "HPS1 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome caused by mutation in HPS1",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "HPS1",
            "description": ""
        },
        {
            "id": "MIM:203300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203300",
            "name": "Hermansky-Pudlak syndrome 1",
            "description": "Hermansky-Pudlak syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060539"
    ],
    "unlinked_id_list": []
}