{
  "id": 10517,
  "label": "Bernard-Soulier syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009276",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    }
  ],
  "children": [
    {
      "id": 9260,
      "label": "Bernard-Soulier syndrome, type A2, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10517
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007930"
    }
  ],
  "roots": [
    {
      "id": 2702,
      "label": "inherited bleeding disorder, platelet-type"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}