{
  "id": 9174,
  "label": "Jacobsen syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007838",
  "properties": {
    "xrefs": [
      "DOID:0111723",
      "GARD:0000307",
      "MEDGEN:162878",
      "NCIT:C75457",
      "OMIM:147791",
      "Orphanet:2308",
      "SCTID:715438008",
      "UMLS:C0795841",
      "icd11.foundation:27788176"
    ],
    "synonyms": [
      "11q terminal deletion disorder",
      "Del(11)(q23.3)",
      "Del(11)(qter)",
      "Jacobsen syndrome",
      "Jacobsen syndrome, Isolated cases",
      "distal deletion 11q",
      "distal monosomy 11q",
      "monosomy 11qter",
      "telomeric deletion 11q",
      "JBS",
      "chromosome 11q deletion syndrome",
      "partial 11q monosomy syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 17329,
      "label": "partial deletion of the long arm of chromosome 11",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GTR:AN0100478",
          "GTR:AN0100479",
          "GTR:AN0100480",
          "MEDGEN:419905",
          "MESH:C538296",
          "NCIT:C37312",
          "Orphanet:262092",
          "UMLS:C2931804",
          "icd11.foundation:237602200"
        ],
        "synonyms": [
          "partial deletion of chromosome 11q",
          "partial deletion of the long arm of chromosome type 11",
          "partial monosomy of chromosome 11q",
          "partial monosomy of the long arm of chromosome 11",
          "11q deletion",
          "11q monosomy",
          "Deletion 11q partial",
          "chromosome 11q deletion",
          "chromosome 11q partial deletion",
          "del(11q)",
          "deletion 11q",
          "loss of chromosome 11q",
          "monosomy 11q",
          "monosomy 11q partial",
          "partial monosomy 11q"
        ],
        "definition": "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016910"
    },
    {
      "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": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17329,
      "label": "partial deletion of the long arm of chromosome 11"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia"
    }
  ]
}