{
  "id": 10066,
  "label": "aniridia-cerebellar ataxia-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008795",
  "properties": {
    "xrefs": [
      "DOID:0111578",
      "GARD:0000013",
      "ICD9:759.89",
      "MEDGEN:96563",
      "MESH:C536370",
      "NORD:786",
      "OMIM:206700",
      "Orphanet:1065",
      "SCTID:253176002",
      "UMLS:C0431401"
    ],
    "synonyms": [
      "Aniridia Cerebellar Ataxia Mental Deficiency",
      "GILLESPIE syndrome",
      "GLSP",
      "Gillespie syndrome",
      "aniridia, cerebellar ataxia and mental deficiency",
      "aniridia, cerebellar ataxia, and intellectual disability",
      "aniridia, cerebellar ataxia, and mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability."
  },
  "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": 12243,
      "label": "iridogoniodysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050786",
          "GARD:0016484",
          "MEDGEN:861486",
          "Orphanet:98634",
          "UMLS:C4013049",
          "icd11.foundation:2030725523"
        ],
        "synonyms": [
          "IRID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0011119"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 12243,
      "label": "iridogoniodysgenesis"
    }
  ]
}