{
  "id": 15569,
  "label": "optic atrophy 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014571",
  "properties": {
    "xrefs": [
      "DOID:0111442",
      "GARD:0018199",
      "MEDGEN:898858",
      "OMIM:616289",
      "UMLS:C4225384"
    ],
    "synonyms": [
      "ACO2 autosomal recessive isolated optic atrophy",
      "autosomal recessive isolated optic atrophy caused by mutation in ACO2",
      "optic atrophy 9",
      "OPA9"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 29303,
      "label": "ACO2-related optic atrophy with or without extraocular features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23256,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028153"
        ],
        "synonyms": [
          "ACO2-related optic atrophy with or without extraocular features",
          "optic atrophy 9",
          "infantile cerebellar-retinal degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration."
      },
      "child_count": 2,
      "reference_id": "MONDO:1060120"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 29303,
      "label": "ACO2-related optic atrophy with or without extraocular features"
    }
  ]
}