{
  "id": 19714,
  "label": "autosomal recessive syndromic cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020047",
  "properties": {
    "xrefs": [
      "GARD:0019416",
      "MEDGEN:1843251",
      "Orphanet:98099",
      "UMLS:C5681516"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24046
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015244"
    }
  ],
  "children": [
    {
      "id": 12892,
      "label": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111611",
          "GARD:0004952",
          "MEDGEN:335442",
          "MESH:C537310",
          "OMIM:607317",
          "Orphanet:95434",
          "UMLS:C1846492"
        ],
        "synonyms": [
          "SCAR4",
          "SCASI",
          "spinocerebellar ataxia 24",
          "spinocerebellar ataxia 24 (formerly)",
          "spinocerebellar ataxia 24, formerly",
          "spinocerebellar ataxia autosomal recessive 4",
          "spinocerebellar ataxia with saccadic Intrusions",
          "spinocerebellar ataxia, autosomal recessive 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011811"
    },
    {
      "id": 14670,
      "label": "autosomal recessive spinocerebellar ataxia 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080063",
          "GARD:0017312",
          "MEDGEN:1681191",
          "OMIM:614229",
          "Orphanet:284271",
          "UMLS:C5190803"
        ],
        "synonyms": [
          "SCAR11",
          "SYT14 autosomal recessive syndromic cerebellar ataxia",
          "autosomal recessive spinocerebellar ataxia 11",
          "autosomal recessive spinocerebellar ataxia type 11",
          "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14",
          "spinocerebellar ataxia, autosomal recessive type 11",
          "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome",
          "spinocerebellar ataxia, autosomal recessive 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013645"
    },
    {
      "id": 14943,
      "label": "peroxisome biogenesis disorder 4B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19714,
        24001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081433",
          "DOID:0111612",
          "GARD:0015860",
          "MEDGEN:766851",
          "MESH:C537309",
          "NCIT:C155755",
          "OMIM:271250",
          "OMIM:614863",
          "Orphanet:95433",
          "UMLS:C3553937"
        ],
        "synonyms": [
          "non-classic peroxisome biogenesis disorder",
          "PBD4B",
          "SCABD",
          "SCAR3",
          "autosomal recessive cerebellar ataxia-blindness-deafness syndrome",
          "autosomal recessive spinocerebellar ataxia type 3",
          "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome",
          "peroxisome biogenesis disorder 4B",
          "peroxisome biogenesis disorder type 4B",
          "spinocerebellar ataxia autosomal recessive 3",
          "spinocerebellar ataxia, autosomal recessive 3",
          "autosomal recessive cerebellar ataxia - blindness - deafness",
          "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome",
          "spinocerebellar ataxia with blindness and deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013931"
    },
    {
      "id": 15555,
      "label": "ataxia - oculomotor apraxia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19714,
        19748,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081383",
          "GARD:0013111",
          "MEDGEN:902323",
          "OMIM:616267",
          "Orphanet:459033",
          "UMLS:C4225397"
        ],
        "synonyms": [
          "AOA4",
          "PNKP oculomotor apraxia or related oculomotor disease",
          "ataxia - oculomotor apraxia type 4",
          "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP",
          "ataxia-oculomotor apraxia 4",
          "ataxia-oculomotor apraxia-4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014557"
    },
    {
      "id": 15736,
      "label": "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19714,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111155",
          "GARD:0017833",
          "MEDGEN:1800507",
          "OMIM:616719",
          "Orphanet:466794",
          "UMLS:C5569084"
        ],
        "synonyms": [
          "SCAR21",
          "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
          "autosomal recessive spinocerebellar ataxia type 21",
          "spinocerebellar ataxia, autosomal recessive 21",
          "spinocerebellar ataxia, autosomal recessive type 21",
          "autosomal recessive spinocerebellar ataxia 21",
          "spinocerebellar ataxia, autosomal recessive 21, with hepatopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014744"
    },
    {
      "id": 16758,
      "label": "Gemignani syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002451",
          "MEDGEN:444093",
          "MESH:C537678",
          "Orphanet:2074",
          "UMLS:C2931587"
        ],
        "synonyms": [
          "spinocerebellar ataxia-amyotrophy-deafness syndrome",
          "spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016159"
    },
    {
      "id": 23406,
      "label": "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18346,
        18718,
        19714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070148",
          "GARD:0016958",
          "GARD:0017937",
          "MEDGEN:330880",
          "MEDGEN:482853",
          "MESH:C564296",
          "OMIM:608088",
          "OMIM:614575",
          "Orphanet:139564",
          "Orphanet:504476",
          "SCTID:717825008",
          "UMLS:C1842586",
          "UMLS:C3281223"
        ],
        "synonyms": [
          "CABV syndrome",
          "CANVAS",
          "HSAN with cough and gastroesophageal reflux",
          "HSAN1B",
          "HSN1B",
          "cerebellar ataxia with bilateral vestibulopathy syndrome",
          "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
          "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux",
          "hereditary sensory and autonomic neuropathy type 1B",
          "hereditary sensory and autonomic neuropathy type IB",
          "hereditary sensory neuropathy type IB",
          "neuropathy, hereditary sensory and autonomic, type 1B",
          "neuropathy, hereditary sensory, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044720"
    }
  ],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    }
  ]
}