{
  "id": 16133,
  "label": "autosomal recessive cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015244",
  "properties": {
    "xrefs": [
      "DOID:0050950",
      "GARD:0018718",
      "MEDGEN:1843058",
      "OMIMPS:213200",
      "Orphanet:1172",
      "UMLS:C5575375"
    ],
    "synonyms": [
      "ARCA",
      "arca",
      "cerebellar ataxia, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 29,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 11234,
      "label": "Charlevoix-Saguenay spastic ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133,
        18064
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050946",
          "GARD:0004910",
          "MEDGEN:338620",
          "MESH:C536787",
          "OMIM:270550",
          "Orphanet:98",
          "SCTID:702445005",
          "UMLS:C1849140"
        ],
        "synonyms": [
          "ARSACS",
          "Charlevoix-Saguenay spastic ataxia",
          "SPAX6",
          "autosomal recessive spastic ataxia type 6",
          "autosomal recessive spastic ataxia of Charlevoix-Saguenay",
          "sacs",
          "spastic ataxia 6, autosomal recessive",
          "spastic ataxia Charlevoix-Saguenay type",
          "spastic ataxia of Charlevoix-Saguenay",
          "spastic ataxia, Charlevoix-Saguenay type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010041"
    },
    {
      "id": 13022,
      "label": "infantile-onset autosomal recessive nonprogressive cerebellar ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111617",
          "GARD:0004954",
          "MEDGEN:334220",
          "MESH:C537312",
          "OMIM:608029",
          "Orphanet:284332",
          "UMLS:C1842676"
        ],
        "synonyms": [
          "SCAR6",
          "autosomal recessive spinocerebellar ataxia type 6",
          "Norwegian infantile onset ataxia",
          "cerebellar ataxia infantile nonprogressive autosomal recessive",
          "cerebellar ataxia, infantile nonprogressive, autosomal recessive",
          "spinocerebellar ataxia autosomal recessive 6",
          "spinocerebellar ataxia, autosomal recessive 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011950"
    },
    {
      "id": 13294,
      "label": "autosomal recessive spinocerebellar ataxia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080059",
          "GARD:0012232",
          "MEDGEN:324520",
          "MESH:C563753",
          "OMIM:609270",
          "Orphanet:284324",
          "UMLS:C1836474"
        ],
        "synonyms": [
          "SCAR7",
          "autosomal recessive spinocerebellar ataxia type 7",
          "spinocerebellar ataxia, autosomal recessive type 7",
          "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia",
          "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia",
          "spinocerebellar ataxia autosomal recessive 7",
          "spinocerebellar ataxia, autosomal recessive 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012235"
    },
    {
      "id": 13597,
      "label": "autosomal recessive ataxia, Beauce type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111618",
          "GARD:0012234",
          "MEDGEN:343973",
          "OMIM:610743",
          "Orphanet:88644",
          "UMLS:C1853116"
        ],
        "synonyms": [
          "ARCA1",
          "SCAR8",
          "autosomal recessive cerebellar ataxia type 1",
          "spinocerebellar ataxia, autosomal recessive type 8",
          "SYNE1-related autosomal recessive cerebellar ataxia",
          "ataxia, recessive, of Beauce",
          "autosomal recessive ataxia Beauce type",
          "autosomal recessive spinocerebellar ataxia 8",
          "cerebellar ataxia, autosomal recessive, type 1",
          "recessive ataxia of Beauce",
          "spinocerebellar ataxia autosomal recessive 8",
          "spinocerebellar ataxia, autosomal recessive 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012549"
    },
    {
      "id": 13804,
      "label": "RIDDLE syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090113",
          "GARD:0017701",
          "MEDGEN:394368",
          "MESH:C567453",
          "NANDO:1200336",
          "NANDO:2200710",
          "OMIM:611943",
          "Orphanet:420741",
          "UMLS:C2677792"
        ],
        "synonyms": [
          "RIDDLE syndrome",
          "RNF168 deficiency",
          "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome",
          "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012764"
    },
    {
      "id": 13824,
      "label": "autosomal recessive ataxia due to ubiquinone deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133,
        18296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070241",
          "GARD:0010294",
          "MEDGEN:436985",
          "MESH:C567436",
          "OMIM:612016",
          "Orphanet:139485",
          "SCTID:725394006",
          "UMLS:C2677589"
        ],
        "synonyms": [
          "ARCA2",
          "SCAR9",
          "autosomal recessive ataxia due to coenzyme Q10 deficiency",
          "autosomal recessive cerebellar ataxia type 2",
          "autosomal recessive spinocerebellar ataxia type 9",
          "coenzyme Q10 deficiency, primary, type 4",
          "COQ10D4",
          "autosomal recessive spinocerebellar ataxia 9",
          "coenzyme Q10 deficiency, primary, 4",
          "spinocerebellar ataxia, autosomal recessive 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012784"
    },
    {
      "id": 14425,
      "label": "autosomal recessive spinocerebellar ataxia 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050999",
          "GARD:0017314",
          "MEDGEN:462348",
          "OMIM:613728",
          "Orphanet:284289",
          "UMLS:C3150998"
        ],
        "synonyms": [
          "ANO10 autosomal recessive cerebellar ataxia",
          "SCAR10",
          "autosomal recessive cerebellar ataxia caused by mutation in ANO10",
          "autosomal recessive spinocerebellar ataxia type 10",
          "spinocerebellar ataxia, autosomal recessive type 10",
          "adult-onset autosomal recessive cerebellar ataxia",
          "spinocerebellar ataxia, autosomal recessive 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013392"
    },
    {
      "id": 15093,
      "label": "ataxia with oculomotor apraxia type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060557",
          "GARD:0013112",
          "MEDGEN:767604",
          "OMIM:615217",
          "UMLS:C3554690"
        ],
        "synonyms": [
          "ataxia-oculomotor apraxia 3",
          "ataxia-oculomotor apraxia type 3",
          "AOA3",
          "ataxia-oculomotor apraxia-3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014084"
    },
    {
      "id": 15166,
      "label": "autosomal recessive spinocerebellar ataxia 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080058",
          "GARD:0017516",
          "MEDGEN:1636182",
          "OMIM:615386",
          "Orphanet:352403",
          "SCTID:763351003",
          "UMLS:C4706415"
        ],
        "synonyms": [
          "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur",
          "SCAR14",
          "SPARCA",
          "SPARCA1",
          "SPTBN2 autosomal recessive cerebellar ataxia",
          "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2",
          "autosomal recessive cerebellar ataxia-cognitive defect syndrome",
          "autosomal recessive spinocerebellar ataxia type 14",
          "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome",
          "spectrin-associated autosomal recessive cerebellar ataxia type 1",
          "spinocerebellar ataxia, autosomal recessive type 14",
          "cerebellar ataxia, autosomal recessive, spectrin-associated, 1",
          "spectrin-associated autosomal recessive cerebellar ataxia",
          "spinocerebellar ataxia, autosomal recessive 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014159"
    },
    {
      "id": 15341,
      "label": "autosomal recessive spinocerebellar ataxia 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080029",
          "GARD:0017689",
          "MEDGEN:1674542",
          "OMIM:615768",
          "Orphanet:412057",
          "UMLS:C5190574"
        ],
        "synonyms": [
          "SCAR16",
          "STUB1 autosomal recessive cerebellar ataxia",
          "autosomal recessive cerebellar ataxia caused by mutation in STUB1",
          "autosomal recessive spinocerebellar ataxia 16",
          "autosomal recessive spinocerebellar ataxia type 16",
          "spinocerebellar ataxia autosomal recessive type 16",
          "spinocerebellar ataxia, autosomal recessive type 16",
          "autosomal recessive cerebellar ataxia due to STUB1 deficiency",
          "spinocerebellar ataxia, autosomal recessive 16"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014339"
    },
    {
      "id": 15570,
      "label": "Lichtenstein-Knorr syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080065",
          "GARD:0017780",
          "MEDGEN:898996",
          "OMIM:616291",
          "Orphanet:448251",
          "UMLS:C4225383"
        ],
        "synonyms": [
          "LIKNS",
          "Lichtenstein-Knorr syndrome",
          "SCAR19",
          "SLC9A1-related spinocerebellar ataxia syndrome",
          "autosomal recessive spinocerebellar ataxia type 19",
          "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome",
          "spinocerebellar ataxia, autosomal recessive 19"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014572"
    },
    {
      "id": 15599,
      "label": "autosomal recessive spinocerebellar ataxia 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        16133,
        19709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080066",
          "GARD:0017636",
          "MEDGEN:1684324",
          "OMIM:616354",
          "Orphanet:397709",
          "UMLS:C5190595"
        ],
        "synonyms": [
          "SCAR20",
          "SNX14 autosomal recessive cerebellar ataxia",
          "autosomal recessive cerebellar ataxia caused by mutation in SNX14",
          "autosomal recessive spinocerebellar ataxia type 20",
          "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome",
          "spinocerebellar ataxia, autosomal recessive type 20",
          "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome",
          "spinocerebellar ataxia, autosomal recessive 20"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014601"
    },
    {
      "id": 15829,
      "label": "spinocerebellar ataxia, autosomal recessive 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111614",
          "GARD:0025026",
          "MEDGEN:934748",
          "OMIM:616948",
          "UMLS:C4310781"
        ],
        "synonyms": [
          "SCAR22",
          "VWA3B autosomal recessive cerebellar ataxia",
          "autosomal recessive cerebellar ataxia caused by mutation in VWA3B",
          "spinocerebellar ataxia, autosomal recessive 22",
          "spinocerebellar ataxia, autosomal recessive 22; SCAR22",
          "spinocerebellar ataxia, autosomal recessive type 22"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014845"
    },
    {
      "id": 15913,
      "label": "spinocerebellar ataxia, autosomal recessive 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111615",
          "GARD:0025035",
          "MEDGEN:934666",
          "OMIM:617133",
          "UMLS:C4310699"
        ],
        "synonyms": [
          "SCAR24",
          "UBA5 autosomal recessive cerebellar ataxia",
          "autosomal recessive cerebellar ataxia caused by mutation in UBA5",
          "spinocerebellar ataxia, autosomal recessive 24",
          "spinocerebellar ataxia, autosomal recessive 24; SCAR24",
          "spinocerebellar ataxia, autosomal recessive type 24"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014934"
    },
    {
      "id": 18492,
      "label": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133,
        16437
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021719",
          "MEDGEN:1843349",
          "Orphanet:404481",
          "UMLS:C5681145"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018446"
    },
    {
      "id": 19711,
      "label": "autosomal recessive congenital cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019412",
          "MEDGEN:1843070",
          "Orphanet:98095",
          "UMLS:C5681519"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020043"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019413",
          "MEDGEN:1842756",
          "Orphanet:98096",
          "UMLS:C5681517"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020044"
    },
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019415",
          "MEDGEN:1842627",
          "Orphanet:98098",
          "UMLS:C5681515"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020046"
    },
    {
      "id": 19714,
      "label": "autosomal recessive syndromic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
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