{
  "id": 14107,
  "label": "autosomal recessive optic atrophy, OPA7 type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013069",
  "properties": {
    "xrefs": [
      "DOID:0111437",
      "GARD:0017143",
      "MEDGEN:414112",
      "MESH:C567833",
      "OMIM:612989",
      "Orphanet:227976",
      "UMLS:C2751812"
    ],
    "synonyms": [
      "TMEM126A-related optic atrophy with or without extraocular features",
      "OPA7",
      "optic atrophy 7 with or without auditory neuropathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "An optic atrophy that is caused by a mutation in the TMEM126A gene."
  },
  "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 23256,
      "label": "hereditary optic atrophy"
    }
  ]
}