{
  "id": 18912,
  "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018996",
  "properties": {
    "xrefs": [
      "DOID:0050755",
      "GARD:0012860",
      "MEDGEN:340052",
      "MESH:C537308",
      "NCIT:C165500",
      "OMIM:606002",
      "Orphanet:64753",
      "SCTID:725408001",
      "UMLS:C1853761"
    ],
    "synonyms": [
      "AOA2",
      "SCAN 2",
      "SCAN2",
      "ataxia with oculomotor apraxia type 2",
      "ataxia-ocular apraxia 2",
      "ataxia-oculomotor apraxia 2",
      "ataxia-oculomotor apraxia type 2",
      "spinocerebellar ataxia with axonal neuropathy type 2",
      "spinocerebellar ataxia, autosomal recessive 1",
      "spinocerebellar ataxia, autosomal recessive type 1",
      "SCAR1",
      "autosomal recessive spinocerebellar ataxia-1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 20172,
      "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025245",
          "MEDGEN:337609",
          "OMIMPS:607250",
          "UMLS:C1846574"
        ],
        "synonyms": [
          "SCAN"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0020771"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 20172,
      "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy"
    }
  ]
}