{
    "disease_id": "DOID:0060651",
    "recommended_name": {
        "id": "DOID:0060651",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060651",
        "name": "MYH-9 related disease",
        "description": "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract."
    },
    "synonyms": [
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "May-Hegglin anomaly",
            "description": "An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene."
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "MHA",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "Dohle leukocyte inclusions with giant platelets",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "May-Hegglin anomaly",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "matins",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "macrothrombocytopenia with leukocyte inclusions",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "bleeding disorder, Platelet-type, 6",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "May-Hegglin thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; matins",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "MAY-Hegglin anomaly; MHA",
            "description": ""
        },
        {
            "id": "MONDO:0007954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007954",
            "name": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MIM:155100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/155100",
            "name": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
            "description": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"
        }
    ]
}