{
  "id": 19535,
  "label": "autosomal dominant cerebellar ataxia type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019792",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 30,
  "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": 8589,
      "label": "Machado-Joseph disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1440",
          "GARD:0006801",
          "ICD9:336.8",
          "MEDGEN:9841",
          "MESH:D017827",
          "NANDO:1200041",
          "NCIT:C84830",
          "NORD:1389",
          "OMIM:109150",
          "Orphanet:98757",
          "SCTID:91952008",
          "UMLS:C0024408"
        ],
        "synonyms": [
          "Azorean disease of the nervous system",
          "MJD",
          "Machado disease",
          "Machado-Joseph disease",
          "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia",
          "SCA3",
          "autosomal dominant striatonigral degeneration",
          "spinocerebellar ataxia 3",
          "spinocerebellar ataxia type 3",
          "Azorean neurologic disease",
          "Nigrospinodentatal Degeneration",
          "Spinopontine atrophy",
          "spinocerebellar atrophy 3",
          "spinocerebellar atrophy type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007182"
    },
    {
      "id": 8698,
      "label": "spinocerebellar ataxia type 29",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050978",
          "GARD:0010480",
          "MEDGEN:350085",
          "MESH:C537206",
          "OMIM:117360",
          "Orphanet:208513",
          "SCTID:715825009",
          "UMLS:C1861732",
          "icd11.foundation:359640365"
        ],
        "synonyms": [
          "SCA29",
          "congenital nonprogressive spinocerebellar ataxia",
          "spinocerebellar ataxia 29, congenital nonprogressive",
          "spinocerebellar ataxia type 29",
          "ACV",
          "aplasia of cerebellar vermis",
          "cerebellar ataxia early-onset nonprogressive",
          "cerebellar ataxia, congenital nonprogressive, autosomal dominant",
          "cerebellar vermis aplasia",
          "spinocerebellar ataxia 29"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007298"
    },
    {
      "id": 8952,
      "label": "spinocerebellar ataxia type 34",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19131,
        19535,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050981",
          "GARD:0000059",
          "MEDGEN:338703",
          "MESH:C535738",
          "NORD:1105",
          "OMIM:133190",
          "Orphanet:1955",
          "SCTID:719255000",
          "UMLS:C1851481"
        ],
        "synonyms": [
          "Erythrokeratodermia with Ataxia",
          "SCA34",
          "erythrokeratodermia with ataxia",
          "spinocerebellar ataxia and erythrokeratodermia",
          "spinocerebellar ataxia type 34",
          "Giroux Barbeau syndrome",
          "erythrokeratodermia - ataxia",
          "spinocerebellar ataxia 34"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007574"
    },
    {
      "id": 9434,
      "label": "spinocerebellar ataxia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050954",
          "GARD:0004071",
          "MEDGEN:155703",
          "NANDO:1200045",
          "NCIT:C129982",
          "OMIM:164400",
          "Orphanet:98755",
          "SCTID:715748006",
          "UMLS:C0752120",
          "icd11.foundation:2071487961"
        ],
        "synonyms": [
          "ATXN1 autosomal dominant cerebellar ataxia type I",
          "SCA1",
          "Sca1",
          "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1",
          "spinocerebellar ataxia type 1",
          "Menzel type OPCA",
          "OPCA 1",
          "OPCA 4",
          "OPCA1",
          "OPCA4",
          "Schut-haymaker type OPCA",
          "cerebelloparenchymal disorder 1",
          "olivopontocerebellar atrophy 1",
          "olivopontocerebellar atrophy 4",
          "spinocerebellar ataxia 1",
          "spinocerebellar atrophy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008119"
    },
    {
      "id": 9750,
      "label": "spinocerebellar ataxia type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6868,
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050955",
          "DOID:0060204",
          "GARD:0004072",
          "MEDGEN:155704",
          "NANDO:1200046",
          "NCIT:C148315",
          "OMIM:183090",
          "Orphanet:98756",
          "SCTID:715751004",
          "UMLS:C0752121",
          "icd11.foundation:1232187870"
        ],
        "synonyms": [
          "ATXN2 autosomal dominant cerebellar ataxia type I",
          "OPCA2",
          "SCA2",
          "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2",
          "spinocerebellar ataxia type 2",
          "ALS13",
          "SCA 2",
          "Wadia swami syndrome",
          "Wadia-swami syndrome",
          "amyotrophic lateral sclerosis 13",
          "amyotrophic lateral sclerosis type 13",
          "amyotrophic lateral sclerosis, susceptibility to, 13",
          "cerebellar Degeneration with slow eye movements",
          "olivopontocerebellar atrophy 2",
          "olivopontocerebellar atrophy Holguin type",
          "olivopontocerebellar atrophy, Holguin type",
          "spinocerebellar Degeneration with slow eye movements",
          "spinocerebellar ataxia 2",
          "spinocerebellar ataxia Cuban type",
          "spinocerebellar ataxia with slow eye movements",
          "spinocerebellar ataxia, Cuban type",
          "spinocerebellar atrophy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008458"
    },
    {
      "id": 11982,
      "label": "spinocerebellar ataxia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050957",
          "GARD:0009970",
          "MEDGEN:199815",
          "OMIM:600223",
          "Orphanet:98765",
          "SCTID:715755008",
          "UMLS:C0752122",
          "icd11.foundation:1686006145"
        ],
        "synonyms": [
          "SCA4",
          "spinocerebellar ataxia 4",
          "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy",
          "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010847"
    },
    {
      "id": 12164,
      "label": "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15713,
        19535,
        24400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001188",
          "MEDGEN:318633",
          "MESH:C535351",
          "NANDO:1200526",
          "OMIM:601338",
          "Orphanet:1171",
          "SCTID:720634003",
          "UMLS:C1832466"
        ],
        "synonyms": [
          "CAPOS syndrome",
          "CAPOS",
          "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss",
          "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss",
          "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011038"
    },
    {
      "id": 12502,
      "label": "autosomal dominant cerebellar ataxia, deafness and narcolepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5338,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050968",
          "GARD:0012372",
          "MEDGEN:928337",
          "OMIM:604121",
          "Orphanet:314404",
          "UMLS:C4302668"
        ],
        "synonyms": [
          "ADCA-DN syndrome",
          "autosomal dominant cerebellar ataxia, deafness and narcolepsy",
          "ADCA-DN",
          "ADCADN",
          "autosomal dominant cerebellar ataxia, deafness, and narcolepsy",
          "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome",
          "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011397"
    },
    {
      "id": 12544,
      "label": "spinocerebellar ataxia type 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050962",
          "GARD:0010476",
          "MEDGEN:347653",
          "MESH:C565790",
          "NCIT:C154316",
          "OMIM:604326",
          "Orphanet:98762",
          "SCTID:719208005",
          "UMLS:C1858501",
          "icd11.foundation:1210063722"
        ],
        "synonyms": [
          "SCA12",
          "spinocerebellar ataxia type 12",
          "spinocerebellar ataxia 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011439"
    },
    {
      "id": 12627,
      "label": "spinocerebellar ataxia type 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050963",
          "GARD:0009611",
          "MEDGEN:344297",
          "MESH:C537195",
          "OMIM:605259",
          "Orphanet:98768",
          "SCTID:719209002",
          "UMLS:C1854488",
          "icd11.foundation:1191033828"
        ],
        "synonyms": [
          "SCA13",
          "spinocerebellar ataxia type 13",
          "autosomal dominant cerebellar ataxia with intellectual disability",
          "autosomal dominant cerebellar ataxia with mental retardation",
          "cerebellar ataxia, autosomal dominant with intellectual disability",
          "cerebellar ataxia, autosomal dominant with mental retardation",
          "spinocerebellar ataxia 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011529"
    },
    {
      "id": 12638,
      "label": "spinocerebellar ataxia type 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050964",
          "GARD:0009867",
          "MEDGEN:343106",
          "MESH:C537196",
          "OMIM:605361",
          "Orphanet:98763",
          "SCTID:719210007",
          "UMLS:C1854369",
          "icd11.foundation:736357100"
        ],
        "synonyms": [
          "SCA14",
          "spinocerebellar ataxia type 14",
          "spinocerebellar ataxia 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011540"
    },
    {
      "id": 12783,
      "label": "spinocerebellar ataxia type 15/16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050965",
          "DOID:0050966",
          "GARD:0010477",
          "MEDGEN:338301",
          "MESH:C564685",
          "NCIT:C150250",
          "OMIM:606658",
          "Orphanet:98769",
          "Orphanet:98770",
          "SCTID:716724006",
          "UMLS:C1847725"
        ],
        "synonyms": [
          "SCA15/16",
          "SCAR16",
          "spinocerebellar ataxia type 15",
          "spinocerebellar ataxia type 15/16",
          "spinocerebellar ataxia type 16",
          "SCA15",
          "SCA16 (formerly)",
          "spinocerebellar ataxia 15",
          "spinocerebellar ataxia 16",
          "spinocerebellar ataxia 16 (formerly)",
          "spinocerebellar ataxia 16, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011694"
    },
    {
      "id": 12865,
      "label": "spinocerebellar ataxia type 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2729,
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050967",
          "GARD:0010469",
          "MEDGEN:337637",
          "MESH:C563505",
          "MESH:C564616",
          "MESH:C565866",
          "NCIT:C179861",
          "OMIM:164700",
          "OMIM:213100",
          "OMIM:607136",
          "Orphanet:98759",
          "SCTID:719249005",
          "UMLS:C1846707",
          "icd11.foundation:1173627424"
        ],
        "synonyms": [
          "CPD2",
          "HDL4",
          "Huntington disease-like 4",
          "OPCA V",
          "OPCA with dementia and extrapyramidal signs",
          "SCA 17",
          "SCA17",
          "cerebelloparenchymal disorder II",
          "olivopontocerebellar atrophy 5",
          "olivopontocerebellar atrophy type 5",
          "spinocerebellar ataxia 17",
          "spinocerebellar ataxia type 17",
          "CPD, late-onset recessive type",
          "olivopontocerebellar atrophy V"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011781"
    },
    {
      "id": 12900,
      "label": "spinocerebellar ataxia type 19/22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050970",
          "GARD:0012365",
          "MEDGEN:339504",
          "MESH:C537198",
          "MESH:C542540",
          "NCIT:C163756",
          "OMIM:607346",
          "Orphanet:98772",
          "SCTID:719251009",
          "UMLS:C1846367"
        ],
        "synonyms": [
          "SCA19/22",
          "spinocerebellar ataxia type 19",
          "SCA19",
          "spinocerebellar ataxia 19",
          "spinocerebellar ataxia 19 and 22",
          "spinocerebellar ataxia 22"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011819"
    },
    {
      "id": 12914,
      "label": "spinocerebellar ataxia type 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050972",
          "GARD:0009999",
          "MEDGEN:375311",
          "MESH:C537200",
          "OMIM:607454",
          "Orphanet:98773",
          "SCTID:718774001",
          "UMLS:C1843891",
          "icd11.foundation:1426889593"
        ],
        "synonyms": [
          "SCA21",
          "spinocerebellar ataxia type 21",
          "spinocerebellar ataxia 21"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011833"
    },
    {
      "id": 12915,
      "label": "spinocerebellar ataxia type 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050969",
          "GARD:0009976",
          "MEDGEN:336066",
          "MESH:C537197",
          "OMIM:607458",
          "Orphanet:98771",
          "SCTID:719250005",
          "UMLS:C1843884",
          "icd11.foundation:1564628854"
        ],
        "synonyms": [
          "SCA18",
          "SMNA",
          "sensorimotor neuropathy with ataxia autosomal dominant",
          "sensorimotor neuropathy with ataxia, autosomal dominant",
          "spinocerebellar ataxia 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011834"
    },
    {
      "id": 13164,
      "label": "spinocerebellar ataxia type 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050971",
          "GARD:0009997",
          "MEDGEN:373352",
          "MESH:C537199",
          "OMIM:608687",
          "Orphanet:101110",
          "SCTID:718771009",
          "UMLS:C1837541",
          "icd11.foundation:960716995"
        ],
        "synonyms": [
          "SCA20",
          "spinocerebellar ataxia type 20",
          "chromosome 11q12 duplication syndrome, 260-Kb",
          "spinocerebellar ataxia 20",
          "spinocerebellar ataxia with dysphonia",
          "spinocerebellar ataxia with spasmodic cough"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012098"
    },
    {
      "id": 13169,
      "label": "spinocerebellar ataxia type 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050974",
          "GARD:0009996",
          "MEDGEN:373347",
          "MESH:C537202",
          "OMIM:608703",
          "Orphanet:101111",
          "SCTID:718770005",
          "UMLS:C1837518",
          "icd11.foundation:8347192"
        ],
        "synonyms": [
          "SCA25",
          "spinocerebellar ataxia 25"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012103"
    },
    {
      "id": 13182,
      "label": "spinocerebellar ataxia type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050959",
          "GARD:0004956",
          "MEDGEN:332457",
          "OMIM:608768",
          "Orphanet:98760",
          "SCTID:715753001",
          "UMLS:C1837454",
          "icd11.foundation:1735913595"
        ],
        "synonyms": [
          "SCA8",
          "spinocerebellar ataxia type 8",
          "spinocerebellar ataxia 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012116"
    },
    {
      "id": 13306,
      "label": "spinocerebellar ataxia type 27",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050976",
          "GARD:0009963",
          "MEDGEN:373075",
          "MESH:C537204",
          "OMIM:609307",
          "Orphanet:98764",
          "SCTID:719252002",
          "UMLS:C1836383",
          "icd11.foundation:1408059647"
        ],
        "synonyms": [
          "SCA27",
          "spinocerebellar ataxia type 27",
          "cerebellar ataxia autosomal dominant FGF14-related",
          "cerebellar ataxia, autosomal dominant, Fgf14-related",
          "spinocerebellar ataxia 27"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012247"
    },
    {
      "id": 13499,
      "label": "spinocerebellar ataxia type 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050973",
          "GARD:0009950",
          "MEDGEN:339942",
          "MESH:C537201",
          "OMIM:610245",
          "Orphanet:101108",
          "SCTID:718772002",
          "UMLS:C1853250",
          "icd11.foundation:1340267869"
        ],
        "synonyms": [
          "SCA23",
          "spinocerebellar ataxia type 23",
          "spinocerebellar ataxia 23"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012449"
    },
    {
      "id": 13500,
      "label": "spinocerebellar ataxia type 28",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050977",
          "GARD:0009951",
          "MEDGEN:339941",
          "MESH:C537205",
          "OMIM:610246",
          "Orphanet:101109",
          "SCTID:715824008",
          "UMLS:C1853249",
          "icd11.foundation:2020736035"
        ],
        "synonyms": [
          "SCA28",
          "spinocerebellar ataxia type 28",
          "spinocerebellar ataxia 28"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012450"
    },
    {
      "id": 14516,
      "label": "spinocerebellar ataxia type 35",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050982",
          "GARD:0012366",
          "MEDGEN:854733",
          "OMIM:613908",
          "Orphanet:276193",
          "SCTID:719300001",
          "UMLS:C3888031",
          "icd11.foundation:1674449075"
        ],
        "synonyms": [
          "SCA35",
          "spinocerebellar ataxia type 35",
          "spinocerebellar ataxia 35"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013485"
    },
    {
      "id": 14517,
      "label": "spinocerebellar ataxia type 32",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017276",
          "MEDGEN:462693",
          "OMIM:613909",
          "Orphanet:276183",
          "SCTID:719254001",
          "UMLS:C3151343",
          "icd11.foundation:1372046516"
        ],
        "synonyms": [
          "SCA32",
          "cerebellar ataxia with azoospermia and intellectual disability",
          "spinocerebellar ataxia 32"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013486"
    },
    {
      "id": 14621,
      "label": "spinocerebellar ataxia type 36",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050983",
          "GARD:0012367",
          "MEDGEN:483339",
          "NANDO:1200048",
          "NCIT:C148316",
          "OMIM:614153",
          "Orphanet:276198",
          "SCTID:711158005",
          "UMLS:C3472711",
          "icd11.foundation:1544814018"
        ],
        "synonyms": [
          "Asidan",
          "SCA36",
          "spinocerebellar ataxia type 36",
          "spinocerebellar ataxia 36"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013594"
    },
    {
      "id": 14898,
      "label": "cerebellar dysfunction with variable cognitive and behavioral abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050998",
          "GARD:0017429",
          "MEDGEN:766575",
          "OMIM:614756",
          "Orphanet:314647",
          "SCTID:723441001",
          "UMLS:C3553661"
        ],
        "synonyms": [
          "CAMTA1-related disorder",
          "CANPMR",
          "cerebellar ataxia, nonprogressive, with intellectual disability",
          "cerebellar ataxia, nonprogressive, with mental retardation",
          "cerebellar dysfunction with variable cognitive and behavioral abnormalities",
          "non-progressive cerebellar ataxia with intellectual disability",
          "nonprogressive cerebellar ataxia with intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013886"
    },
    {
      "id": 15412,
      "label": "spinocerebellar ataxia type 37",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050984",
          "GARD:0012368",
          "MEDGEN:855217",
          "OMIM:615945",
          "Orphanet:363710",
          "SCTID:719301002",
          "UMLS:C3889636"
        ],
        "synonyms": [
          "SCA37",
          "spinocerebellar ataxia with altered vertical eye movements",
          "spinocerebellar ataxia 37"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014410"
    },
    {
      "id": 15474,
      "label": "spinocerebellar ataxia type 40",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050986",
          "GARD:0012371",
          "MEDGEN:1385103",
          "OMIM:616053",
          "Orphanet:423275",
          "SCTID:734020000",
          "UMLS:C4518336"
        ],
        "synonyms": [
          "SCA40",
          "spinocerebellar ataxia type 40",
          "spinocerebellar ataxia 40"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014475"
    },
    {
      "id": 22659,
      "label": "spinocerebellar ataxia 46",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080288",
          "GARD:0022352",
          "MEDGEN:1624251",
          "OMIM:617770",
          "Orphanet:589522",
          "UMLS:C4540404"
        ],
        "synonyms": [
          "spinocerebellar ataxia 46",
          "SCA46",
          "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033481"
    },
    {
      "id": 25885,
      "label": "neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16437,
        19535,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027314",
          "OMIM:620719",
          "Orphanet:589515"
        ],
        "synonyms": [
          "PUM1-associated developmental disability-ataxia-seizure syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0958231"
    }
  ],
  "roots": [
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia"
    }
  ]
}