{
  "id": 24873,
  "label": "OPA1-related optic atrophy with or without extraocular features",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800181",
  "properties": {
    "xrefs": [
      "GARD:0026472"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19107,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:700",
          "GARD:0018887",
          "MEDGEN:1778113",
          "MESH:D028361",
          "NANDO:1200173",
          "NANDO:2100163",
          "Orphanet:68380",
          "UMLS:C1456275"
        ],
        "synonyms": [
          "mitochondrial disease",
          "mitochondrial genetic disorders",
          "mitochondrial metabolism disease"
        ],
        "definition": "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
      },
      "child_count": 42,
      "reference_id": "MONDO:0004069"
    },
    {
      "id": 19769,
      "label": "hereditary optic neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019540",
          "MedDRA:10061323",
          "Orphanet:98671",
          "icd11.foundation:2452831"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0020249"
    }
  ],
  "children": [
    {
      "id": 10123,
      "label": "Behr syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        24270,
        24873
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111580",
          "GARD:0000849",
          "MEDGEN:66358",
          "MESH:C537669",
          "NCIT:C177251",
          "OMIM:210000",
          "Orphanet:1239",
          "SCTID:718221007",
          "UMLS:C0221061"
        ],
        "synonyms": [
          "Behr syndrome",
          "BEHRS",
          "optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss",
          "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss",
          "optic atrophy, infantile hereditary, Behr complicated form of",
          "optic atrophy, infantile hereditary, with neurologic abnormalities"
        ],
        "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": "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008858"
    }
  ],
  "roots": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder"
    },
    {
      "id": 19769,
      "label": "hereditary optic neuropathy"
    }
  ]
}