{
  "id": 19537,
  "label": "autosomal dominant cerebellar ataxia type IV",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019794",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16360,
        24046
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020380"
    }
  ],
  "children": [
    {
      "id": 8825,
      "label": "dentatorubral-pallidoluysian atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16361,
        19537
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060162",
          "GARD:0005643",
          "ICD9:333.99",
          "MEDGEN:155630",
          "NANDO:1200043",
          "NCIT:C122653",
          "OMIM:125370",
          "Orphanet:101",
          "SCTID:68116008",
          "UMLS:C0751781"
        ],
        "synonyms": [
          "DRPLA",
          "Dentatorubropallidoluysian atrophy",
          "Naito-Oyanagi disease",
          "dentatorubral-pallidoluysian atrophy",
          "haw River syndrome",
          "NOD",
          "Naito Oyanagi disease",
          "ataxia, chorea, seizures, and dementia",
          "dentatorubral pallidoluysian atrophy",
          "myoclonic epilepsy with choreoathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007435"
    },
    {
      "id": 12441,
      "label": "spinocerebellar ataxia type 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19537
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050960",
          "GARD:0010474",
          "MEDGEN:369786",
          "MESH:C566874",
          "OMIM:603516",
          "Orphanet:98761",
          "SCTID:715754007",
          "UMLS:C1963674",
          "icd11.foundation:157300879"
        ],
        "synonyms": [
          "SCA10",
          "spinocerebellar ataxia type 10",
          "spinocerebellar ataxia 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011330"
    }
  ],
  "roots": [
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia"
    }
  ]
}