{
  "id": 23372,
  "label": "9q33.3q34.11 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044641",
  "properties": {
    "xrefs": [
      "GARD:0022009",
      "MEDGEN:1811810",
      "Orphanet:495818",
      "UMLS:C5680085"
    ],
    "synonyms": [
      "9q33.3-q34.11 microdeletion syndrome",
      "Del(9)(q33.3q34.11)",
      "deletion 9q33.3q34.11",
      "monosomy 9q33.3-q34.11",
      "monosomy 9q33.3q34.11"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050888",
          "MEDGEN:1842178",
          "UMLS:C5680525"
        ],
        "synonyms": [
          "syndrome associated with intellectual disability",
          "syndromic intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A intellectual disability that is part of a larger syndrome."
      },
      "child_count": 34,
      "reference_id": "MONDO:0000508"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17327,
      "label": "partial monosomy of the long arm of chromosome 9",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17299
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826024",
          "Orphanet:262074",
          "UMLS:C5679677",
          "icd11.foundation:1051626600"
        ],
        "synonyms": [
          "partial deletion of chromosome 9q",
          "partial deletion of the long arm of chromosome 9",
          "partial monosomy of chromosome 9q",
          "partial monosomy of the long arm of chromosome type 9"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016908"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17327,
      "label": "partial monosomy of the long arm of chromosome 9"
    }
  ]
}