{
  "id": 18062,
  "label": "spastic ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017845",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [
    {
      "id": 13692,
      "label": "spastic ataxia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16082,
        18062
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050941",
          "GARD:0017644",
          "MEDGEN:370750",
          "MESH:C566969",
          "OMIM:611302",
          "Orphanet:397946",
          "UMLS:C1969796"
        ],
        "synonyms": [
          "KIF1C spastic ataxia",
          "SPAX2",
          "SPG58",
          "autosomal recessive spastic ataxia type 2",
          "spastic ataxia 2",
          "spastic ataxia caused by mutation in KIF1C",
          "spastic ataxia type 2",
          "autosomal recessive spastic paraplegia type 58",
          "spastic ataxia 2, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012651"
    },
    {
      "id": 15791,
      "label": "spasticity-ataxia-gait anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18062,
        18473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012681",
          "MEDGEN:905660",
          "OMIM:616859",
          "Orphanet:401866",
          "UMLS:C4225178"
        ],
        "synonyms": [
          "SPAHGC",
          "childhood-onset spasticity with variant non-ketotic hyperglycinemia",
          "spasticity, childhood-onset, with hyperglycinemia",
          "childhood-onset spasticity with hyperglycinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014803"
    },
    {
      "id": 18063,
      "label": "autosomal dominant spastic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18062
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021402",
          "MEDGEN:1842682",
          "Orphanet:316235",
          "UMLS:C5679899",
          "icd11.foundation:1327229348"
        ],
        "synonyms": [
          "AD-SPAX",
          "spastic ataxia, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of spastic ataxia."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017846"
    },
    {
      "id": 18064,
      "label": "autosomal recessive spastic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18062
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021403",
          "MEDGEN:1826141",
          "Orphanet:316240",
          "UMLS:C5679900"
        ],
        "synonyms": [
          "AR-SPAX",
          "spastic ataxia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of spastic ataxia."
      },
      "child_count": 14,
      "reference_id": "MONDO:0017847"
    },
    {
      "id": 22412,
      "label": "spastic ataxia 9, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18062
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025734",
          "MEDGEN:1680026",
          "OMIM:618438",
          "UMLS:C5193100"
        ],
        "synonyms": [
          "SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE",
          "SPAX9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032753"
    },
    {
      "id": 25796,
      "label": "spastic ataxia 10, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18062
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026908",
          "MEDGEN:1851662",
          "OMIM:620666",
          "UMLS:C5882738"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958009"
    }
  ],
  "roots": [
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}