{
    "disease_id": "DOID:0090118",
    "recommended_name": {
        "id": "DOID:0090118",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090118",
        "name": "congenital amegakaryocytic thrombocytopenia",
        "description": "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0090118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090118",
            "name": "CAMT",
            "description": ""
        },
        {
            "id": "DOID:0090118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090118",
            "name": "congenital amegakaryocytic thrombocytopenic purpura",
            "description": ""
        },
        {
            "id": "MONDO:0011469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011469",
            "name": "congenital amegakaryocytic thrombocytopenia",
            "description": "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome 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:0011469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011469",
            "name": "CAMT",
            "description": ""
        },
        {
            "id": "MONDO:0011469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011469",
            "name": "thrombocytopenia congenital amegakaryocytic",
            "description": ""
        },
        {
            "id": "MONDO:0011469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011469",
            "name": "amegakaryocytic thrombocytopenia, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0011469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011469",
            "name": "amegakaryocytic thrombocytopenia, congenital; CAMT",
            "description": ""
        },
        {
            "id": "MONDO:0011469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011469",
            "name": "congenital amegakaryocytic thrombocytopenic purpura",
            "description": ""
        },
        {
            "id": "MIM:604498",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604498",
            "name": "Congenital amegakaryocytic thrombocytopenia",
            "description": "Congenital amegakaryocytic thrombocytopenia"
        }
    ]
}