{
    "disease_id": "DOID:0070111",
    "recommended_name": {
        "id": "DOID:0070111",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070111",
        "name": "Niemann-Pick disease type A",
        "description": "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."
    },
    "synonyms": [
        {
            "id": "MONDO:0009756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009756",
            "name": "Niemann-Pick disease type A",
            "description": "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders."
        },
        {
            "id": "MONDO:0009756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009756",
            "name": "sphingomyelin lipidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009756",
            "name": "Niemann-PICK disease, type A",
            "description": ""
        },
        {
            "id": "MONDO:0009756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009756",
            "name": "Niemann-Pick disease, Intermediate, protracted neurovisceral",
            "description": ""
        },
        {
            "id": "MONDO:0009756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009756",
            "name": "sphingomyelinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:257200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/257200",
            "name": "Niemann-Pick disease A",
            "description": "Niemann-Pick disease A"
        }
    ]
}