{
  "id": 10377,
  "label": "cerebellar ataxia, intellectual disability, and dysequilibrium",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009133",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 19711,
      "label": "autosomal recessive congenital cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019412",
          "MEDGEN:1843070",
          "Orphanet:98095",
          "UMLS:C5681519"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020043"
    }
  ],
  "children": [
    {
      "id": 13480,
      "label": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070557",
          "GARD:0015473",
          "MEDGEN:412914",
          "MESH:C567656",
          "OMIM:610185",
          "UMLS:C2750234"
        ],
        "synonyms": [
          "WDR81 dysequilibrium syndrome",
          "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2",
          "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2",
          "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",
          "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2",
          "dysequilibrium syndrome caused by mutation in WDR81",
          "CAMRQ2",
          "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2",
          "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2"
        ],
        "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 WDR81 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012430"
    },
    {
      "id": 14224,
      "label": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070558",
          "GARD:0015634",
          "MEDGEN:442496",
          "MESH:C567690",
          "OMIM:613227",
          "UMLS:C2750509"
        ],
        "synonyms": [
          "CA8 dysequilibrium syndrome",
          "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3",
          "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3",
          "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",
          "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3",
          "dysequilibrium syndrome caused by mutation in CA8",
          "CAMRQ3",
          "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3",
          "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3"
        ],
        "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 CA8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013188"
    },
    {
      "id": 15113,
      "label": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070559",
          "GARD:0015930",
          "MEDGEN:815307",
          "OMIM:615268",
          "UMLS:C3808977"
        ],
        "synonyms": [
          "ATP8A2 dysequilibrium syndrome",
          "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4",
          "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4",
          "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",
          "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4",
          "dysequilibrium syndrome caused by mutation in ATP8A2",
          "CAMRQ4",
          "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4",
          "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4"
        ],
        "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 ATP8A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014104"
    },
    {
      "id": 21488,
      "label": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10377
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024542"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19711,
      "label": "autosomal recessive congenital cerebellar ataxia"
    }
  ]
}