{
  "id": 9749,
  "label": "spinocerebellar ataxia type 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008457",
  "properties": {
    "xrefs": [
      "DOID:0050956",
      "GARD:0010351",
      "MEDGEN:148458",
      "NANDO:1200042",
      "NCIT:C142838",
      "OMIM:183086",
      "Orphanet:98758",
      "SCTID:715752006",
      "UMLS:C0752124",
      "icd11.foundation:1056119281"
    ],
    "synonyms": [
      "CACNA1A autosomal dominant cerebellar ataxia type III",
      "SCA6",
      "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A",
      "spinocerebellar ataxia type 6",
      "spinocerebellar ataxia 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19536,
      "label": "autosomal dominant cerebellar ataxia type III",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019253",
          "MEDGEN:1842779",
          "Orphanet:94148",
          "UMLS:C5680260"
        ],
        "synonyms": [
          "ADCA3",
          "ADCAIII",
          "Pure cerebellar syndrome-mild pyramidal signs syndrome",
          "autosomal dominant cerebellar ataxia type 3",
          "autosomal dominant cerebellar ataxia type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019793"
    },
    {
      "id": 23992,
      "label": "CACNA1A-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027064"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19536,
      "label": "autosomal dominant cerebellar ataxia type III"
    },
    {
      "id": 23992,
      "label": "CACNA1A-related complex neurodevelopmental disorder"
    }
  ]
}