{
  "id": 19536,
  "label": "autosomal dominant cerebellar ataxia type III",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019793",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "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": 8696,
      "label": "spinocerebellar ataxia type 31",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050980",
          "GARD:0009975",
          "MEDGEN:348439",
          "MESH:C566146",
          "NANDO:1200044",
          "NCIT:C176901",
          "OMIM:117210",
          "Orphanet:217012",
          "SCTID:715826005",
          "UMLS:C1861736",
          "icd11.foundation:250956064"
        ],
        "synonyms": [
          "SCA31",
          "spinocerebellar ataxia type 31",
          "spinocerebellar ataxia 16q22-linked",
          "spinocerebellar ataxia 31",
          "spinocerebellar ataxia, 16Q22-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007296"
    },
    {
      "id": 9749,
      "label": "spinocerebellar ataxia type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536,
        23992
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008457"
    },
    {
      "id": 11983,
      "label": "spinocerebellar ataxia type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050882",
          "GARD:0004953",
          "MEDGEN:155705",
          "OMIM:600224",
          "Orphanet:98766",
          "SCTID:719302009",
          "UMLS:C0752123",
          "icd11.foundation:78905851"
        ],
        "synonyms": [
          "SCA5",
          "spinocerebellar ataxia type 5",
          "spinocerebellar ataxia 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010848"
    },
    {
      "id": 12568,
      "label": "spinocerebellar ataxia type 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050961",
          "GARD:0010475",
          "MEDGEN:346799",
          "MESH:C565772",
          "OMIM:604432",
          "Orphanet:98767",
          "SCTID:719207000",
          "UMLS:C1858351",
          "icd11.foundation:743674840"
        ],
        "synonyms": [
          "SCA11",
          "spinocerebellar ataxia type 11",
          "spinocerebellar ataxia 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011464"
    },
    {
      "id": 13305,
      "label": "spinocerebellar ataxia type 26",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050975",
          "GARD:0009995",
          "MEDGEN:373077",
          "MESH:C537203",
          "OMIM:609306",
          "Orphanet:101112",
          "SCTID:718769009",
          "UMLS:C1836395",
          "icd11.foundation:586976339"
        ],
        "synonyms": [
          "SCA26",
          "spinocerebellar ataxia type 26",
          "spinocerebellar ataxia 26"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012246"
    },
    {
      "id": 14277,
      "label": "spinocerebellar ataxia type 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050979",
          "GARD:0004950",
          "MEDGEN:424821",
          "MESH:C575214",
          "OMIM:613371",
          "Orphanet:211017",
          "SCTID:719253007",
          "UMLS:C2936793",
          "icd11.foundation:716324960"
        ],
        "synonyms": [
          "SCA30",
          "spinocerebellar ataxia type 30",
          "spinocerebellar ataxia 30"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013241"
    },
    {
      "id": 15419,
      "label": "spinocerebellar ataxia type 38",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18270,
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050985",
          "GARD:0012369",
          "MEDGEN:1379865",
          "OMIM:615957",
          "Orphanet:423296",
          "SCTID:734021001",
          "UMLS:C4518337"
        ],
        "synonyms": [
          "SCA38",
          "spinocerebellar ataxia type 38",
          "spinocerebellar ataxia 38"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014417"
    },
    {
      "id": 15622,
      "label": "spinocerebellar ataxia type 41",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111744",
          "GARD:0017810",
          "MEDGEN:908281",
          "OMIM:616410",
          "Orphanet:458798",
          "UMLS:C4225158"
        ],
        "synonyms": [
          "SCA41",
          "spinocerebellar ataxia type 41",
          "spinocerebellar ataxia 41"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014626"
    },
    {
      "id": 15765,
      "label": "spinocerebellar ataxia type 42",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111742",
          "EFO:0009059",
          "GARD:0017811",
          "MEDGEN:902592",
          "NCIT:C171269",
          "OMIM:616795",
          "Orphanet:458803",
          "UMLS:C4225205"
        ],
        "synonyms": [
          "SCA42",
          "spinocerebellar ataxia 42",
          "spinocerebellar ataxia type 42"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0014776"
    },
    {
      "id": 22658,
      "label": "spinocerebellar ataxia 45",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080287",
          "GARD:0022353",
          "MEDGEN:1622156",
          "OMIM:617769",
          "Orphanet:589527",
          "UMLS:C4540400"
        ],
        "synonyms": [
          "spinocerebellar ataxia 45",
          "SCA45"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033480"
    }
  ],
  "roots": [
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia"
    }
  ]
}