{
  "id": 11925,
  "label": "Leber hereditary optic neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010788",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "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": 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"
    },
    {
      "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": [
    {
      "id": 11910,
      "label": "Leber optic atrophy and dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11925,
        19935
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010772"
    }
  ],
  "roots": [
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19769,
      "label": "hereditary optic neuropathy"
    },
    {
      "id": 23256,
      "label": "hereditary optic atrophy"
    }
  ]
}