{
  "id": 12916,
  "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011835",
  "properties": {
    "xrefs": [
      "DOID:0111276",
      "GARD:0009998",
      "MEDGEN:375302",
      "OMIM:607459",
      "OMIM:613832",
      "Orphanet:402082",
      "Orphanet:70595",
      "UMLS:C1843851"
    ],
    "synonyms": [
      "EPM5",
      "PME type 5",
      "PRICKLE2 progressive myoclonic epilepsy",
      "SANDO",
      "epilepsy, progressive myoclonic, type 5",
      "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)",
      "progressive myoclonic epilepsy caused by mutation in PRICKLE2",
      "progressive myoclonus epilepsy type 5",
      "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
      "epilepsy, progressive myoclonic, 5",
      "epilepsy, progressive myoclonic, 5, formerly",
      "epilepsy, progressive myoclonic, with sensory ataxic neuropathy",
      "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive",
      "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome",
      "spinocerebellar ataxia with epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "id": 17232,
      "label": "ataxia neuropathy spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020759",
          "MEDGEN:777176",
          "MESH:C579922",
          "Orphanet:254818",
          "UMLS:C3683791"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016798"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 17238,
      "label": "spinocerebellar ataxia with epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12916
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017229",
          "MEDGEN:334510",
          "MESH:C564395",
          "Orphanet:254881",
          "UMLS:C1843852",
          "icd11.foundation:1238648682"
        ],
        "synonyms": [
          "MSCAE",
          "SCAE",
          "mitochondrial spinocerebellar ataxia with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016809"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 17232,
      "label": "ataxia neuropathy spectrum"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}