{
  "id": 9446,
  "label": "autosomal dominant optic atrophy, classic form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008134",
  "properties": {
    "xrefs": [
      "DOID:0111441",
      "GARD:0009890",
      "MEDGEN:137902",
      "OMIM:165500",
      "Orphanet:98673",
      "SCTID:717336005",
      "UMLS:C0338508"
    ],
    "synonyms": [
      "Kjer optic atrophy",
      "autosomal dominant optic atrophy, Kjer type",
      "optic atrophy type 1",
      "Kjer-type optic atrophy",
      "OAK",
      "OPA1",
      "optic atrophy 1",
      "optic atrophy, Kjer type",
      "optic atrophy, juvenile"
    ],
    "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": "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 19770,
      "label": "autosomal dominant optic atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19769,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011972",
          "MEDGEN:1647918",
          "MESH:D029241",
          "NCIT:C84577",
          "Orphanet:98672",
          "SCTID:2065009",
          "UMLS:C4551508"
        ],
        "synonyms": [
          "ADOA",
          "DOA",
          "optic atrophy, autosomal dominant",
          "dominant optic atrophy"
        ],
        "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": "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss."
      },
      "child_count": 18,
      "reference_id": "MONDO:0020250"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19770,
      "label": "autosomal dominant optic atrophy"
    }
  ]
}