{
    "disease_id": "DOID:3753", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "Hermansky-Pudlak syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "Hermansky-Pudlak syndrome caused by mutation in HPS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "Hermansky-Pudlak syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "Delta storage pool disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "Hermansky-Pudlak syndrome 1; HPS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "HPS1 Hermansky-Pudlak syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008748", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008748", 
            "name": "HPS1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:3753", 
        "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.", 
        "resource": "Disease Ontology", 
        "id": "DOID:3753", 
        "name": "Hermansky-Pudlak syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/3753#disease-associations", 
            "id": "3753", 
            "database": "Alliance of Genome Resources"
        }
    ]
}