{
  "id": 9839,
  "label": "platelet-type bleeding disorder 16",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008552",
  "properties": {
    "xrefs": [
      "DOID:0060691",
      "GARD:0024629",
      "MEDGEN:1781222",
      "MESH:C566061",
      "OMIM:187800",
      "UMLS:C5442010"
    ],
    "synonyms": [
      "bleeding disorder, platelet-type, 16, autosomal dominant",
      "platelet-type bleeding disorder 16",
      "BDPLT16",
      "Glanzmann thrombasthenia, autosomal dominant",
      "bleeding disorder, platelet-type, 16",
      "thrombasthenia of Glanzmann and Naegeli, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32."
  },
  "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": 20411,
      "label": "inherited blood coagulation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2214",
          "GARD:0020319",
          "MEDGEN:163105",
          "MESH:D025861",
          "Orphanet:183654",
          "UMLS:C0852077"
        ],
        "synonyms": [
          "coagulation disorder, hereditary",
          "coagulation disorder, inherited",
          "coagulation disorders, hereditary",
          "coagulation disorders, inherited",
          "hereditary blood coagulation disease",
          "hereditary blood coagulation disorders",
          "hereditary coagulation disorder",
          "hereditary coagulation disorders",
          "inherited blood coagulation disorders",
          "inherited coagulation disorder",
          "inherited coagulation disorders",
          "rare genetic coagulation disorder",
          "inherited blood coagulation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."
      },
      "child_count": 78,
      "reference_id": "MONDO:0021181"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2702,
      "label": "inherited bleeding disorder, platelet-type"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}