{
    "disease_id": "DOID:0060540",
    "recommended_name": {
        "id": "DOID:0060540",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060540",
        "name": "Hermansky-Pudlak syndrome 2",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome 2",
            "description": "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "AP3B1 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "HPS-2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "HPS2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome caused by mutation in AP3B1",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky Pudlak syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Platelet defects and oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MIM:608233",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608233",
            "name": "Hermansky-Pudlak syndrome 2",
            "description": "Hermansky-Pudlak syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060540"
    ],
    "unlinked_id_list": []
}