{
    "disease_id": "DOID:0061005",
    "recommended_name": {
        "id": "DOID:0061005",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061005",
        "name": "congenital amegakaryocytic thrombocytopenia 1",
        "description": "A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "congenital amegakaryocytic thrombocytopenia 1",
            "description": "A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood."
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "CAMT1",
            "description": ""
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "amegakaryocytic thrombocytopenia, congenital 1",
            "description": ""
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "thrombocytopenia, congenital amegakaryocytic",
            "description": ""
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "thrombocytopenia congenital amegakaryocytic",
            "description": ""
        },
        {
            "id": "MIM:604498",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604498",
            "name": "Amegakaryocytic thrombocytopenia, congenital, 1",
            "description": "Amegakaryocytic thrombocytopenia, congenital, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061005"
    ],
    "unlinked_id_list": []
}