{
  "id": 21488,
  "label": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024542",
  "properties": {
    "xrefs": [
      "DOID:0070556",
      "GARD:0025423",
      "MEDGEN:1639436",
      "OMIM:224050",
      "UMLS:C4551552"
    ],
    "synonyms": [
      "VLDLR dysequilibrium syndrome",
      "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
      "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1",
      "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1",
      "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1",
      "dysequilibrium syndrome caused by mutation in VLDLR",
      "CAMRQ1",
      "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1",
      "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1",
      "cerebellar ataxia, congenital, and intellectual disability, autosomal recessive",
      "cerebellar ataxia, congenital, and mental retardation, autosomal recessive",
      "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1",
      "cerebellar hypoplasia, VLDLR-associated",
      "dysequilibrium syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10377,
      "label": "cerebellar ataxia, intellectual disability, and dysequilibrium",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050997",
          "GARD:0001998",
          "MEDGEN:98295",
          "MESH:C535731",
          "MedDRA:10013140",
          "NCIT:C114781",
          "OMIMPS:224050",
          "Orphanet:1766",
          "SCTID:230782004",
          "UMLS:C0394006"
        ],
        "synonyms": [
          "CAMRQ syndrome",
          "cerebellar ataxia, mental retardation and dysequlibrium syndrome",
          "cerebellar ataxia, mental retardation, and dysequilibrium",
          "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome",
          "dialysis dysequilibrium syndrome",
          "dysequilibrium syndrome",
          "non-progressive cerebellar ataxia-intellectual disability syndrome",
          "DES",
          "VLDLRCH",
          "cerebellar disorder, nonprogressive, with mental retardation",
          "cerebellar hypoplasia, VLDLR associated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009133"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10377,
      "label": "cerebellar ataxia, intellectual disability, and dysequilibrium"
    }
  ]
}