{
  "id": 20172,
  "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020771",
  "properties": {
    "xrefs": [
      "GARD:0025245",
      "MEDGEN:337609",
      "OMIMPS:607250",
      "UMLS:C1846574"
    ],
    "synonyms": [
      "SCAN"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    },
    {
      "id": 20416,
      "label": "DNA repair disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0008499",
          "GARD:0025299",
          "MEDGEN:82774",
          "MESH:D049914",
          "NCIT:C7757",
          "UMLS:C0268134"
        ],
        "synonyms": [
          "DNA repair disorder",
          "deficiency of DNA repair",
          "disorder of DNA repair",
          "DNA Repairs, deficient",
          "DNA repair deficiency",
          "DNA repair deficiency disorders",
          "DNA repair, deficient",
          "DNA repair-deficiencies",
          "DNA repair-deficiency",
          "DNA repair-deficiency disorder",
          "Repairs, deficient DNA",
          "chromosome instability syndrome",
          "chromosome instability syndromes",
          "deficient DNA Repairs",
          "deficient DNA repair",
          "disorder, DNA repair-deficiency",
          "disorders, DNA repair-deficiency",
          "repair, deficient DNA",
          "syndrome, chromosome instability",
          "syndromes, chromosome instability"
        ],
        "definition": "A disease that has its basis in the disruption of DNA repair."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021190"
    }
  ],
  "children": [
    {
      "id": 12883,
      "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19748,
        20172
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090115",
          "GARD:0010000",
          "MEDGEN:1683470",
          "MESH:C537313",
          "NORD:1730",
          "OMIM:607250",
          "Orphanet:94124",
          "SCTID:765091006",
          "UMLS:C4759870"
        ],
        "synonyms": [
          "autosomal recessive spinocerebellar ataxia with axonal neuropathy",
          "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy",
          "SCAN1",
          "Spinocerebellar Ataxia with Axonal Neuropathy",
          "spinocerebellar ataxia type 1 with axonal neuropathy",
          "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",
          "spinocerebellar ataxia autosomal recessive with axonal neuropathy",
          "spinocerebellar ataxia with axonal neuropathy",
          "spinocerebellar ataxia with axonal neuropathy type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011801"
    },
    {
      "id": 18912,
      "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19748,
        20172
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018996"
    },
    {
      "id": 20171,
      "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20172
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070465",
          "GARD:0025244",
          "MEDGEN:1673607",
          "OMIM:618387",
          "UMLS:C5193070"
        ],
        "synonyms": [
          "SCAN3",
          "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020770"
    }
  ],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    },
    {
      "id": 20416,
      "label": "DNA repair disease"
    }
  ]
}