{
  "id": 16611,
  "label": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015912",
  "properties": {
    "xrefs": [
      "DOID:0060651",
      "EFO:0009646",
      "GARD:0000180",
      "ICD9:287.33",
      "ICD9:582.89",
      "ICD9:759.89",
      "MEDGEN:1704278",
      "MESH:C537831",
      "NCIT:C131646",
      "NCIT:C158788",
      "OMIM:153640",
      "OMIM:155100",
      "OMIM:600208",
      "OMIM:605249",
      "Orphanet:1019",
      "Orphanet:182050",
      "Orphanet:1984",
      "Orphanet:807",
      "Orphanet:850",
      "SCTID:234484005",
      "SCTID:234485006",
      "SCTID:236422008",
      "SCTID:712922002",
      "UMLS:C5200934"
    ],
    "synonyms": [
      "Epstein syndrome",
      "Fechtner syndrome",
      "MYH9-RD",
      "MYH9-related disease",
      "MYH9-related disorder",
      "MYH9-related syndrome",
      "MYH9-related syndromic thrombocytopenia",
      "May-Hegglin anomaly",
      "Sebastian platelet syndrome",
      "Sebastian syndrome",
      "giant platelet syndrome with thrombocytopenia",
      "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
      "macrothrombocytopenia and progressive sensorineural deafness",
      "Alport syndrome with macrothrombocytopenia",
      "Alport syndrome with macrothrombocytopenia, formerly",
      "Brodie Chole griffin syndrome",
      "Brodie Chole gryphon syndrome",
      "Dohle leukocyte inclusions with giant platelets",
      "FTNS",
      "MHA",
      "MYH9 related disorders",
      "MYH9 related thrombocytopenia",
      "May-Hegglin thrombocytopenia",
      "SBS",
      "bleeding disorder, Platelet-type, 6",
      "macrothrombocytopenia progressive deafness",
      "macrothrombocytopenia with dispersed leukocytic inclusions",
      "macrothrombocytopenia with leukocyte inclusions",
      "macrothrombocytopenia, nephritis, and deafness",
      "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions",
      "matins"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2702,
      "label": "inherited bleeding disorder, platelet-type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4360,
        4362,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2218",
          "GARD:0022702",
          "MEDGEN:610",
          "OMIMPS:231200",
          "UMLS:C0005818"
        ],
        "synonyms": [
          "blood platelet disease",
          "platelet disorder",
          "bleeding disorder, platelet-type",
          "thrombocytopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 84,
      "reference_id": "MONDO:0000009"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021967",
          "MEDGEN:1843101",
          "Orphanet:477794",
          "UMLS:C5681257"
        ],
        "synonyms": [
          "syndromic constitutional thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0018795"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2702,
      "label": "inherited bleeding disorder, platelet-type"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia"
    }
  ]
}