{
  "id": 19840,
  "label": "autosomal dominant cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020380",
  "properties": {
    "xrefs": [
      "DOID:1441",
      "GARD:0004346",
      "ICD9:334.3",
      "MEDGEN:1684639",
      "NORD:825",
      "OMIMPS:164400",
      "Orphanet:99",
      "SCTID:129609000",
      "UMLS:C4087347"
    ],
    "synonyms": [
      "SCA",
      "spinocerebellar ataxia",
      "ADCA",
      "Autosomal Dominant Hereditary Ataxia",
      "autosomal dominant spinocerebellar ataxia",
      "cerebellar ataxia, autosomal dominant",
      "Pierre Marie cerebellar ataxia (formerly)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16360,
      "label": "hereditary dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3823,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020028",
          "MEDGEN:1842422",
          "Orphanet:158124",
          "UMLS:C5680680"
        ],
        "synonyms": [
          "genetic dementia"
        ],
        "definition": "An instance of dementia that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 30,
      "reference_id": "MONDO:0015547"
    },
    {
      "id": 24046,
      "label": "hereditary cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2908,
        21292,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026137",
          "MEDGEN:78726",
          "NCIT:C140268",
          "UMLS:C0270749"
        ],
        "synonyms": [
          "cerebellar hereditary ataxia",
          "hereditary cerebellar ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cerebellar ataxia that is transmitted from parent to child."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100310"
    }
  ],
  "children": [
    {
      "id": 2994,
      "label": "GRID2-related autosomal dominant spinocerebellar ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050988",
          "GARD:0022804"
        ],
        "synonyms": [
          "GRID2-related spinocerebellar ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0000563"
    },
    {
      "id": 9935,
      "label": "spinocerebellar ataxia 27A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341,
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009603",
          "MESH:C537856",
          "OMIM:193003"
        ],
        "synonyms": [
          "NYS4",
          "NYSTAGMUS 4, congenital, autosomal dominant",
          "nystagmus 4, congenital, autosomal dominant",
          "vestibulocerebellar disorder with predominant ocular signs"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008654"
    },
    {
      "id": 14067,
      "label": "spinocerebellar ataxia 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111747",
          "GARD:0010481",
          "MEDGEN:854704",
          "OMIM:612876",
          "UMLS:C3887996"
        ],
        "synonyms": [
          "SCA9",
          "cerebellar ataxia type 9",
          "spinocerebellar ataxia 9",
          "spinocerebellar ataxia type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013029"
    },
    {
      "id": 15849,
      "label": "spinocerebellar ataxia 43",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111745",
          "GARD:0017917",
          "MEDGEN:934730",
          "OMIM:617018",
          "Orphanet:497764",
          "UMLS:C4310763"
        ],
        "synonyms": [
          "MME autosomal dominant cerebellar ataxia",
          "SCA43",
          "autosomal dominant cerebellar ataxia caused by mutation in MME",
          "spinocerebellar ataxia 43",
          "spinocerebellar ataxia 43; SCA43",
          "spinocerebellar ataxia type 43"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014867"
    },
    {
      "id": 16762,
      "label": "spinocerebellar ataxia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050958",
          "GARD:0020405",
          "MEDGEN:156006",
          "NCIT:C126562",
          "OMIM:164500",
          "Orphanet:208508",
          "Orphanet:94147",
          "SCTID:715726000",
          "UMLS:C0752125"
        ],
        "synonyms": [
          "ADCA2",
          "ADCAII",
          "ATXN7 autosomal dominant cerebellar ataxia type II",
          "SCA7",
          "ataxia with pigmentary retinopathy",
          "autosomal dominant cerebellar ataxia type 2",
          "autosomal dominant cerebellar ataxia type II",
          "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7",
          "cerebellar syndrome-pigmentary maculopathy syndrome",
          "spinocerebellar ataxia 7",
          "spinocerebellar ataxia type 7",
          "ADCA, type II",
          "Adca, type 2",
          "OPCA 3",
          "OPCA III",
          "OPCA with macular Degeneration and external ophthalmoplegia",
          "OPCA with retinal Degeneration",
          "OPCA3",
          "autosomal dominant cerebellar ataxia, type 2",
          "olivopontocerebellar atrophy 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016163"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019252",
          "MEDGEN:1842696",
          "Orphanet:94145",
          "UMLS:C5680259"
        ],
        "synonyms": [
          "ADCA1",
          "ADCAI",
          "autosomal dominant cerebellar ataxia type 1",
          "cerebellar plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019792"
    },
    {
      "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": 19537,
      "label": "autosomal dominant cerebellar ataxia type IV",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019254",
          "MEDGEN:1842584",
          "Orphanet:94149",
          "UMLS:C5680261"
        ],
        "synonyms": [
          "ADCA4",
          "ADCAIV",
          "autosomal dominant cerebellar ataxia type 4",
          "autosomal dominant cerebellar ataxia type IV"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0019794"
    },
    {
      "id": 22050,
      "label": "spinocerebellar ataxia 49",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025640",
          "MEDGEN:1805601",
          "OMIM:619806",
          "Orphanet:631106",
          "UMLS:C5676950"
        ],
        "synonyms": [
          "SCA49",
          "spinocerebellar ataxia 49"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030805"
    },
    {
      "id": 22254,
      "label": "spinocerebellar ataxia 48",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111746",
          "GARD:0025702",
          "MEDGEN:1648409",
          "OMIM:618093",
          "Orphanet:631103",
          "UMLS:C4748158"
        ],
        "synonyms": [
          "SCA48",
          "SPINOCEREBELLAR ATAXIA 48"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032526"
    },
    {
      "id": 22657,
      "label": "spinocerebellar ataxia 44",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080286",
          "GARD:0025801",
          "MEDGEN:1611168",
          "OMIM:617691",
          "Orphanet:631095",
          "UMLS:C4521563"
        ],
        "synonyms": [
          "spinocerebellar ataxia 44",
          "SCA44"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033479"
    },
    {
      "id": 22660,
      "label": "spinocerebellar ataxia 47",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111743",
          "GARD:0022351",
          "MEDGEN:1636349",
          "OMIM:617931",
          "Orphanet:642747",
          "UMLS:C4693672"
        ],
        "synonyms": [
          "PUM1-related cerebellar ataxia",
          "spinocerebellar ataxia 47",
          "SCA47"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0033482"
    },
    {
      "id": 25466,
      "label": "spinocerebellar ataxia 50",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026703",
          "MEDGEN:1824045",
          "OMIM:620158",
          "UMLS:C5774272"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859334"
    },
    {
      "id": 25472,
      "label": "spinocerebellar ataxia 27B, late-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061137",
          "GARD:0026707",
          "MEDGEN:1824051",
          "OMIM:620174",
          "Orphanet:675216",
          "UMLS:C5774278"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859340"
    },
    {
      "id": 26109,
      "label": "spinocerebellar ataxia 51",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027318",
          "MEDGEN:1874924",
          "OMIM:620947",
          "UMLS:C5975394"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975800"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16360,
      "label": "hereditary dementia"
    },
    {
      "id": 24046,
      "label": "hereditary cerebellar ataxia"
    }
  ]
}