{
  "id": 21514,
  "label": "optic atrophy 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024569",
  "properties": {
    "xrefs": [
      "DOID:0111439",
      "GARD:0016148",
      "MEDGEN:898923",
      "OMIM:616648",
      "UMLS:C4085249"
    ],
    "synonyms": [
      "OPA8",
      "optic atrophy 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 15713,
      "label": "autosomal dominant optic atrophy plus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19770,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111340",
          "GARD:0005243",
          "Orphanet:1215",
          "SCTID:715374003",
          "icd11.foundation:1149710475"
        ],
        "synonyms": [
          "DOA+",
          "optic atrophy type 8",
          "optic atrophy-deafness-polyneuropathy-myopathy syndrome",
          "Treft-Sanborn-Carey syndrome",
          "dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy",
          "optic atrophy - deafness- polyneuropathy - myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness."
      },
      "child_count": 8,
      "reference_id": "MONDO:0014720"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 15713,
      "label": "autosomal dominant optic atrophy plus syndrome"
    }
  ]
}