{
  "id": 15555,
  "label": "ataxia - oculomotor apraxia type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014557",
  "properties": {
    "xrefs": [
      "DOID:0081383",
      "GARD:0013111",
      "MEDGEN:902323",
      "OMIM:616267",
      "Orphanet:459033",
      "UMLS:C4225397"
    ],
    "synonyms": [
      "AOA4",
      "PNKP oculomotor apraxia or related oculomotor disease",
      "ataxia - oculomotor apraxia type 4",
      "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP",
      "ataxia-oculomotor apraxia 4",
      "ataxia-oculomotor apraxia-4"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19714,
      "label": "autosomal recessive syndromic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019416",
          "MEDGEN:1843251",
          "Orphanet:98099",
          "UMLS:C5681516"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020047"
    },
    {
      "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": 23452,
      "label": "inherited dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5367,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021630",
          "MEDGEN:1842468",
          "NANDO:1200511",
          "NCIT:C35527",
          "OMIMPS:128100",
          "Orphanet:391799",
          "UMLS:C5680022"
        ],
        "synonyms": [
          "familial dystonia",
          "hereditary dystonic disorder",
          "rare genetic dystonia",
          "rare genetic dystonic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 48,
      "reference_id": "MONDO:0044807"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19714,
      "label": "autosomal recessive syndromic cerebellar ataxia"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 23452,
      "label": "inherited dystonia"
    }
  ]
}