{
  "id": 15166,
  "label": "autosomal recessive spinocerebellar ataxia 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014159",
  "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)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    }
  ]
}