{
    "disease_id": "DOID:0060546", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013560", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013560", 
            "name": "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013560", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013560", 
            "name": "Hermansky-Pudlak syndrome type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013560", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013560", 
            "name": "Hermansky-Pudlak syndrome 8; HPS8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013560", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013560", 
            "name": "BLOC1S3 Hermansky-Pudlak syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013560", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013560", 
            "name": "HPS8"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060546", 
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060546", 
        "name": "Hermansky-Pudlak syndrome 8"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060546#disease-associations", 
            "id": "0060546", 
            "database": "Alliance of Genome Resources"
        }
    ]
}