{
    "disease_id": "DOID:0060540", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "Hermansky-Pudlak syndrome with neutropenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "Hermansky-Pudlak syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "Hermansky-Pudlak syndrome 2; HPS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "AP3B1 Hermansky-Pudlak syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "Hermansky Pudlak syndrome 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "Hermansky-Pudlak syndrome caused by mutation in AP3B1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "Platelet defects and oculocutaneous albinism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011997", 
            "name": "HPS2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060540", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060540", 
        "name": "Hermansky-Pudlak syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060540#disease-associations", 
            "id": "0060540", 
            "database": "Alliance of Genome Resources"
        }
    ]
}