{
  "id": 11910,
  "label": "Leber optic atrophy and dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010772",
  "properties": {
    "xrefs": [
      "DOID:0111755",
      "GARD:0015311",
      "MEDGEN:333240",
      "MESH:C536024",
      "OMIM:500001",
      "UMLS:C1839040"
    ],
    "synonyms": [
      "Leber optic atrophy and dystonia",
      "LDYT",
      "LHON and dystonia",
      "Leber Hereditary optic neuropathy with dystonia",
      "Leber hereditary optic neuropathy with dystonia",
      "Leber's hereditary optic neuropathy with dystonia",
      "Marsden syndrome",
      "dystonia familial, with visual failure and striatal lucencies",
      "dystonia, familial, with visual failure and striatal lucencies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11925,
      "label": "Leber hereditary optic neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16878,
        16918,
        19769,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:705",
          "GARD:0006870",
          "MEDGEN:182973",
          "MESH:D029242",
          "NANDO:1200178",
          "NANDO:1200940",
          "NCIT:C84808",
          "NORD:1352",
          "OMIM:535000",
          "Orphanet:104",
          "SCTID:58610003",
          "UMLS:C0917796",
          "icd11.foundation:1018428959"
        ],
        "synonyms": [
          "LHON",
          "Leber Hereditary optic atrophy",
          "Leber hereditary optic neuropathy",
          "Leber optic atrophy",
          "Leber’s disease",
          "optic atrophy, Leber type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010788"
    },
    {
      "id": 19935,
      "label": "Leber plus disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111754",
          "GARD:0008476",
          "MEDGEN:930394",
          "Orphanet:99718",
          "SCTID:719430008",
          "UMLS:C4304725"
        ],
        "synonyms": [
          "LHON plus disease"
        ],
        "definition": "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020478"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11925,
      "label": "Leber hereditary optic neuropathy"
    },
    {
      "id": 19935,
      "label": "Leber plus disease"
    }
  ]
}