{
  "id": 29303,
  "label": "ACO2-related optic atrophy with or without extraocular features",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060120",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 23256,
      "label": "hereditary optic atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3336,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025871",
          "ICD10CM:H47.22",
          "MEDGEN:45207",
          "MESH:D015418",
          "NCIT:C34864",
          "OMIMPS:165500",
          "SCTID:26360005",
          "UMLS:C0029125"
        ],
        "synonyms": [
          "hereditary optic atrophy",
          "Atrophies, hereditary optic",
          "atrophy, hereditary optic",
          "hereditary optic Atrophies",
          "optic atrophy, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve."
      },
      "child_count": 30,
      "reference_id": "MONDO:0043878"
    },
    {
      "id": 23488,
      "label": "mitochondrial disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027984",
          "MEDGEN:155901",
          "NANDO:1200173",
          "NANDO:2100163",
          "UMLS:C0751651"
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0044970"
    }
  ],
  "children": [
    {
      "id": 15569,
      "label": "optic atrophy 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        29303
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014571"
    }
  ],
  "roots": [
    {
      "id": 23256,
      "label": "hereditary optic atrophy"
    },
    {
      "id": 23488,
      "label": "mitochondrial disease"
    }
  ]
}