{
  "id": 14794,
  "label": "spastic ataxia 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013776",
  "properties": {
    "xrefs": [
      "DOID:0050944",
      "GARD:0017409",
      "MEDGEN:482607",
      "OMIM:614487",
      "Orphanet:313772",
      "UMLS:C3280977"
    ],
    "synonyms": [
      "AFG3L2 autosomal recessive spastic ataxia",
      "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome",
      "AFG3L2-related spastic ataxia-neuropathy syndrome",
      "SPAX5",
      "autosomal recessive spastic ataxia caused by mutation in AFG3L2",
      "autosomal recessive spastic ataxia type 5",
      "spastic ataxia type 5",
      "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome",
      "spastic ataxia 5, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24746,
      "label": "AFG3L2-related optic atrophy and/or spastic ataxia spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028028"
        ],
        "synonyms": [
          "AFG3L2-related optic atrophy and/or spastic ataxia spectrum"
        ],
        "definition": "Any disorder caused by a heterozygous variant or biallelic variants in the AFG3L2 gene and characterized by a spectrum of phenotypes including optic atrophy and/or spastic ataxia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700372"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18064,
      "label": "autosomal recessive spastic ataxia"
    },
    {
      "id": 24746,
      "label": "AFG3L2-related optic atrophy and/or spastic ataxia spectrum"
    }
  ]
}