{
  "id": 14390,
  "label": "chromosome 17q11.2 deletion syndrome, 1.4Mb",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013357",
  "properties": {
    "xrefs": [
      "DOID:0060403",
      "GARD:0005408",
      "MEDGEN:1726802",
      "MESH:C563524",
      "OMIM:613675",
      "Orphanet:137634",
      "Orphanet:97685",
      "SCTID:722122000",
      "UMLS:C5401456"
    ],
    "synonyms": [
      "17q11 microdeletion syndrome",
      "Del(17)(q11)",
      "MMFD",
      "NF1 microdeletion syndrome",
      "NF1 microduplication syndrome",
      "RNF135-related overgrowth syndrome",
      "Van Asperen syndrome",
      "chromosome 17q11.2 deletion syndrome",
      "chromosome 17q11.2 deletion syndrome, 1.4-MB",
      "macrocephaly, macrosomia, and facial dysmorphism syndrome",
      "monosomy 17q11",
      "neurofibromatosis 1 microdeletion syndrome",
      "neurofibromatosis type 1 microdeletion syndrome",
      "overgrowth-macrocephaly-facial dysmorphism syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17334,
      "label": "partial deletion of the long arm of chromosome 17",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17304
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826046",
          "Orphanet:262137",
          "UMLS:C5679727",
          "icd11.foundation:186065235"
        ],
        "synonyms": [
          "partial deletion of chromosome 17q",
          "partial deletion of the long arm of chromosome type 17",
          "partial monosomy of chromosome 17q",
          "partial monosomy of the long arm of chromosome 17"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016915"
    },
    {
      "id": 18894,
      "label": "neurofibromatosis type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507,
        20302,
        20303,
        20691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:15",
          "DOID:0111253",
          "GARD:0007866",
          "ICD10CM:Q85.01",
          "ICD9:237.71",
          "MEDGEN:18013",
          "MESH:C538607",
          "MESH:D009456",
          "MedDRA:10047712",
          "NANDO:1200225",
          "NANDO:1200226",
          "NANDO:2100287",
          "NANDO:2201003",
          "NCIT:C3273",
          "NORD:1502",
          "OMIM:162200",
          "Orphanet:636",
          "SCTID:92824003",
          "UMLS:C0027831",
          "icd11.foundation:337970533"
        ],
        "synonyms": [
          "neurofibromatosis",
          "NF1",
          "Neurofibromatosis 1",
          "Nf1-Microdeletion syndrome",
          "neurofibromatosis 1",
          "neurofibromatosis type 1",
          "neurofibromatosis type i",
          "neurofibromatosis, type 1",
          "nonmosaic NF1",
          "nonmosaic neurofibromatosis type 1",
          "peripheral neurofibromatosis",
          "Recklinghausen's disease",
          "Von Recklinghausen disease",
          "neurofibromatosis type 1 microdeletion syndrome",
          "neurofibromatosis, peripheral type",
          "neurofibromatosis, type I",
          "type 1 neurofibromatosis",
          "von Reklinghausen disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018975"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17334,
      "label": "partial deletion of the long arm of chromosome 17"
    },
    {
      "id": 18894,
      "label": "neurofibromatosis type 1"
    }
  ]
}