{
  "id": 9260,
  "label": "Bernard-Soulier syndrome, type A2, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007930",
  "properties": {
    "xrefs": [
      "DOID:0111059",
      "GARD:0015082",
      "MEDGEN:478706",
      "OMIM:153670",
      "UMLS:C3277076"
    ],
    "synonyms": [
      "BSSA2",
      "Bernard-Soulier syndrome, type A2 (dominant)",
      "Bernard-Soulier syndrome, type A2, autosomal dominant",
      "Bernard-Soulier syndrome type A2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10517,
      "label": "Bernard-Soulier syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2702,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2217",
          "GARD:0002470",
          "MEDGEN:2212",
          "MESH:D001606",
          "MedDRA:10057473",
          "NANDO:2200656",
          "NCIT:C84595",
          "NORD:851",
          "OMIM:231200",
          "Orphanet:274",
          "SCTID:234478007",
          "UMLS:C0005129",
          "icd11.foundation:507309898"
        ],
        "synonyms": [
          "Bernard-Soulier syndrome",
          "Bernard-Soulier syndrome, type A1 (recessive)",
          "Hemorrhagiparous thrombocytic dystrophy",
          "giant platelet disorder, isolated",
          "giant platelet syndrome",
          "BSS",
          "Bernard-Soulier syndrome, type A1",
          "Bernard-Soulier syndrome, type B",
          "Bernard-Soulier syndrome, type C",
          "Platelet glycoprotein 1b, deficiency of",
          "Platelet glycoprotein Ib deficiency",
          "Von Willebrand Factor receptor deficiency",
          "bleeding disorder, Platelet-type, 1",
          "deficiency of platelet glycoprotein 1b",
          "giant platelet disease",
          "glycoprotein Ib, Platelet, deficiency of",
          "macrothrombocytopenia, familial Bernard-Soulier type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009276"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10517,
      "label": "Bernard-Soulier syndrome"
    }
  ]
}