{
  "id": 24045,
  "label": "hereditary ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100309",
  "properties": {
    "xrefs": [
      "DOID:0050951",
      "EFO:0009671",
      "GARD:0020286",
      "ICD10CM:G11",
      "ICD10WHO:G11",
      "MEDGEN:2478",
      "MESH:C531684",
      "Orphanet:183518",
      "SCTID:763597000",
      "UMLS:C0004138",
      "icd11.foundation:442347652"
    ],
    "synonyms": [
      "rare hereditary ataxia",
      "SCA"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 20,
  "parents": [
    {
      "id": 24044,
      "label": "atactic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "ataxic disorder",
          "ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100308"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 8573,
      "label": "ataxia with fasciculations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024528",
          "MEDGEN:400052",
          "MESH:C566246",
          "OMIM:108700",
          "UMLS:C1862440"
        ],
        "synonyms": [
          "ataxia with fasciculations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007166"
    },
    {
      "id": 9349,
      "label": "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6639,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002417",
          "ICD9:728.2",
          "MEDGEN:137966",
          "OMIM:158500",
          "Orphanet:2579",
          "SCTID:237611007",
          "UMLS:C0342281"
        ],
        "synonyms": [
          "Furukawa-Takagi-Nakao syndrome",
          "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus",
          "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008023"
    },
    {
      "id": 9366,
      "label": "myoclonus-cerebellar ataxia-deafness syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003873",
          "MEDGEN:331780",
          "MESH:C563549",
          "OMIM:159800",
          "Orphanet:2589",
          "UMLS:C1834579"
        ],
        "synonyms": [
          "myoclonus cerebellar ataxia deafness",
          "myoclonus, cerebellar ataxia, and deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008043"
    },
    {
      "id": 10191,
      "label": "cataract-ataxia-deafness syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001141",
          "MEDGEN:163216",
          "MESH:C538283",
          "OMIM:212710",
          "Orphanet:1368",
          "UMLS:C0796123"
        ],
        "synonyms": [
          "Begeer syndrome",
          "cataract ataxia deafness",
          "cataract ataxia deafness syndrome",
          "cataract-ataxia-deafness-retardation syndrome",
          "polyneuropathy, cataract, deafness syndrome",
          "polyneuropathy-cataract-deafness syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008928"
    },
    {
      "id": 10238,
      "label": "ataxia-hypogonadism-choroidal dystrophy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16526,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111265",
          "GARD:0000944",
          "MEDGEN:347798",
          "MESH:C565850",
          "OMIM:215470",
          "Orphanet:1180",
          "SCTID:715984007",
          "UMLS:C1859093"
        ],
        "synonyms": [
          "BNHS",
          "Boucher-Neuhauser syndrome",
          "Boucher-Neuhchäuser syndrome",
          "Boucher-Neuhäuser syndrome",
          "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism",
          "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy",
          "ataxia - hypogonadism - choroidal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008980"
    },
    {
      "id": 10674,
      "label": "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001993",
          "ICD9:571.8",
          "MEDGEN:266150",
          "MESH:C535727",
          "OMIM:242520",
          "Orphanet:2274",
          "SCTID:403779009",
          "UMLS:C1275088"
        ],
        "synonyms": [
          "Dykes-Markes-Harper syndrome",
          "Dykes-Marks-Harper syndrome",
          "Dykes Markes Harper syndrome",
          "ichthyosis, hepatosplenomegaly, and cerebellar degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009445"
    },
    {
      "id": 10719,
      "label": "Richards-Rundle syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008423",
          "MEDGEN:163219",
          "MESH:C535674",
          "OMIM:245100",
          "Orphanet:1399",
          "SCTID:715415005",
          "UMLS:C0796136",
          "icd11.foundation:114583632"
        ],
        "synonyms": [
          "Richards-Rundle syndrome",
          "ketoaciduria-intellectual disability-ataxia-deafness syndrome",
          "RICHARDS-RUNDLE syndrome",
          "RRNS",
          "ataxia-deafness-intellectual disability syndrome",
          "ataxia-deafness-mental retardation syndrome",
          "ataxia-deafness-retardation syndrome with ketoaciduria",
          "familial ataxia-hypogonadism syndrome",
          "ketoaciduria - intellectual disability - ataxia - deafness",
          "ketoaciduria-mental deficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009493"
    },
    {
      "id": 11251,
      "label": "spinocerebellar ataxia-dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004958",
          "MEDGEN:336495",
          "MESH:C564802",
          "OMIM:271270",
          "Orphanet:1185",
          "UMLS:C1849088"
        ],
        "synonyms": [
          "spinocerebellar ataxia with dysmorphism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010062"
    },
    {
      "id": 11282,
      "label": "ataxia-tapetoretinal degeneration syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016559",
          "MEDGEN:336461",
          "MESH:C564788",
          "OMIM:272600",
          "Orphanet:1178",
          "UMLS:C1848932"
        ],
        "synonyms": [
          "tapetoretinal degeneration with ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010095"
    },
    {
      "id": 12885,
      "label": "hereditary spastic paraplegia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        18959,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110816",
          "GARD:0004927",
          "MEDGEN:339552",
          "MESH:C564599",
          "OMIM:607259",
          "Orphanet:99013",
          "SCTID:715776003",
          "UMLS:C1846564"
        ],
        "synonyms": [
          "SPG7",
          "SPG7 hereditary spastic paraplegia",
          "hereditary spastic paraplegia 7",
          "hereditary spastic paraplegia caused by mutation in SPG7",
          "hereditary spastic paraplegia type 7",
          "spastic paraplegia type 7",
          "hereditary spastic paraplegia paraplegin type",
          "spastic paraplegia 7",
          "spastic paraplegia 7, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011803"
    },
    {
      "id": 13229,
      "label": "autosomal dominant sensory ataxia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045,
        24047
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111170",
          "GARD:0024850",
          "MEDGEN:332346",
          "OMIM:608984",
          "UMLS:C1837015"
        ],
        "synonyms": [
          "ADSA",
          "RNF170 hereditary ataxia",
          "SNAX1",
          "hereditary ataxia caused by mutation in RNF170",
          "Adsa",
          "ataxia, sensory, 1, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012166"
    },
    {
      "id": 14044,
      "label": "EAST syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16626,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060484",
          "GARD:0010514",
          "MEDGEN:411243",
          "MESH:C557674",
          "OMIM:612780",
          "Orphanet:199343",
          "SCTID:721207002",
          "UMLS:C2748572"
        ],
        "synonyms": [
          "EAST syndrome",
          "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance",
          "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome",
          "sesame syndrome",
          "SESAMES",
          "epilepsy, ataxia, sensorineural deafness, and tubulopathy",
          "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance",
          "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance",
          "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013005"
    },
    {
      "id": 15522,
      "label": "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017768",
          "MEDGEN:863873",
          "OMIM:616192",
          "Orphanet:445062",
          "UMLS:C4015436"
        ],
        "synonyms": [
          "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome",
          "ACPHD",
          "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014523"
    },
    {
      "id": 16138,
      "label": "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003482",
          "MEDGEN:1682668",
          "Orphanet:1236",
          "UMLS:C5190778"
        ],
        "synonyms": [
          "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome",
          "BD syndrome",
          "intellectual disability - athetosis - microphthalmia",
          "intellectual disability-athetosis-microphthalmia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015252"
    },
    {
      "id": 16808,
      "label": "hereditary episodic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:963",
          "GARD:0020457",
          "MEDGEN:314033",
          "OMIMPS:160120",
          "Orphanet:211062",
          "SCTID:421455009",
          "UMLS:C1720189",
          "icd11.foundation:423095680"
        ],
        "synonyms": [
          "episodic ataxia",
          "Isaacs syndrome",
          "ea syndrome",
          "episodic ataxia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016227"
    },
    {
      "id": 18062,
      "label": "spastic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050952",
          "GARD:0021401",
          "MEDGEN:376528",
          "MESH:C564815",
          "OMIMPS:108600",
          "Orphanet:316226",
          "UMLS:C1849156"
        ],
        "synonyms": [
          "SPAX"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0017845"
    },
    {
      "id": 18648,
      "label": "tremor-ataxia-central hypomyelination syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6639,
        12973,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017774",
          "MEDGEN:1842823",
          "Orphanet:447896",
          "UMLS:C5680067"
        ],
        "synonyms": [
          "TACH syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018656"
    },
    {
      "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"
    },
    {
      "id": 25675,
      "label": "autosomal recessive ataxia due to PEX16 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026830",
          "MEDGEN:1843419",
          "Orphanet:642954",
          "UMLS:C5816797"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957442"
    },
    {
      "id": 25676,
      "label": "autosomal recessive ataxia due to PEX2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026831",
          "MEDGEN:1843414",
          "Orphanet:642965",
          "UMLS:C5816796"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957443"
    }
  ],
  "roots": [
    {
      "id": 24044,
      "label": "atactic disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}