{
    "disease_id": "DOID:1588",
    "recommended_name": {
        "id": "DOID:1588",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1588",
        "name": "thrombocytopenia",
        "description": "A blood platelet disease that is characterized by low a platelet count in the blood."
    },
    "synonyms": [
        {
            "id": "MONDO:0010308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010308",
            "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
            "description": "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present."
        },
        {
            "id": "MONDO:0010308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010308",
            "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0010308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010308",
            "name": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia; XLTDA",
            "description": ""
        },
        {
            "id": "MONDO:0010308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010308",
            "name": "XLTDA",
            "description": ""
        },
        {
            "id": "MONDO:0010308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010308",
            "name": "X-linked thrombocytopenia, with or without dyserythropoietic Anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "thrombocytopenia 4",
            "description": "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene."
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "thrombocytopenia, autosomal dominant, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "thrombocytopenia caused by mutation in CYCS",
            "description": ""
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "THC4",
            "description": ""
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "thrombocytopenia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "thrombocytopenia 4",
            "description": ""
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "thrombocytopenia 4; THC4",
            "description": ""
        },
        {
            "id": "MONDO:0012775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012775",
            "name": "CYCS thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0010120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010120",
            "name": "THC3",
            "description": ""
        },
        {
            "id": "MONDO:0010120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010120",
            "name": "thrombocytopenia, autosomal recessive, 3",
            "description": ""
        },
        {
            "id": "MONDO:0010120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010120",
            "name": "thrombocytopenia 3",
            "description": ""
        },
        {
            "id": "MONDO:0010120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010120",
            "name": "thrombocytopenia 3; THC3",
            "description": ""
        },
        {
            "id": "MONDO:0010120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010120",
            "name": "THC3",
            "description": ""
        },
        {
            "id": "MONDO:0008555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008555",
            "name": "thrombocytopenia 2",
            "description": "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability."
        },
        {
            "id": "MONDO:0008555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008555",
            "name": "thrombocytopenia 2; THC2",
            "description": ""
        },
        {
            "id": "MONDO:0008555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008555",
            "name": "thrombocytopenia, autosomal dominant, 2",
            "description": ""
        },
        {
            "id": "MONDO:0008555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008555",
            "name": "thrombocytopenia autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0008555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008555",
            "name": "THC2",
            "description": ""
        },
        {
            "id": "MONDO:0008555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008555",
            "name": "thrombocytopenia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008555",
            "name": "thrombocytopenia 2",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "X-linked thrombocytopenia with normal platelets",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "thrombocytopenia, X-linked, intermittent",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "THC",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "XLT",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "thrombocytopenia 1; THC1",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "thrombocytopenia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "THC1",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "thrombocytopenia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "X-linked thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "thrombocytopenia, X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010743",
            "name": "thrombocytopenia 1",
            "description": ""
        },
        {
            "id": "MIM:300367",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300367",
            "name": "X-linked dyserythropoietic anemia and thrombocytopenia",
            "description": "X-linked dyserythropoietic anemia and thrombocytopenia"
        },
        {
            "id": "MIM:612004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612004",
            "name": "Thrombocytopenia 4",
            "description": "Thrombocytopenia 4"
        },
        {
            "id": "MIM:273900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/273900",
            "name": "Thrombocytopenia 3",
            "description": "Thrombocytopenia 3"
        },
        {
            "id": "MIM:188000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/188000",
            "name": "Thrombocytopenia 2",
            "description": "Thrombocytopenia 2"
        },
        {
            "id": "MIM:313900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/313900",
            "name": "Thrombocytopenia 1",
            "description": "Thrombocytopenia 1"
        }
    ]
}