{
  "id": 23256,
  "label": "hereditary optic atrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0043878",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 3336,
      "label": "primary optic atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10627",
          "ICD10CM:H47.21",
          "ICD9:377.11",
          "MEDGEN:509897",
          "SCTID:21098003",
          "UMLS:C0155291"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0001084"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 9447,
      "label": "optic atrophy 13 with retinal and foveal abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024603",
          "MEDGEN:1768962",
          "MESH:C563494",
          "OMIM:165510",
          "UMLS:C5435585"
        ],
        "synonyms": [
          "optic atrophy 13 with retinal and foveal abnormalities",
          "optic atrophy with negative Electroretinograms"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008135"
    },
    {
      "id": 10996,
      "label": "optic atrophy 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111435",
          "GARD:0010200",
          "MEDGEN:338012",
          "MESH:C537127",
          "OMIM:258500",
          "Orphanet:99012",
          "UMLS:C1850281"
        ],
        "synonyms": [
          "OPA6",
          "optic atrophy 6",
          "optic atrophy, congenital or early infantile, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009786"
    },
    {
      "id": 11842,
      "label": "optic atrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111443",
          "GARD:0010199",
          "MEDGEN:326915",
          "MESH:C537125",
          "OMIM:311050",
          "Orphanet:98890",
          "SCTID:721200000",
          "UMLS:C1839576"
        ],
        "synonyms": [
          "OPA2",
          "non-Leber type optic atrophy with early-onset",
          "optic atrophy 2",
          "optic atrophy 2, X-linked",
          "optic atrophy type 2",
          "optic atrophy, X-linked",
          "optic atrophy, non-Leber type, with early onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010698"
    },
    {
      "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": 12634,
      "label": "optic atrophy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111440",
          "GARD:0015379",
          "MEDGEN:340236",
          "MESH:C565343",
          "OMIM:605293",
          "UMLS:C1854430"
        ],
        "synonyms": [
          "OPA4",
          "optic atrophy 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011536"
    },
    {
      "id": 14107,
      "label": "autosomal recessive optic atrophy, OPA7 type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        23256
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013069"
    },
    {
      "id": 15987,
      "label": "optic atrophy 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111436",
          "GARD:0018201",
          "MEDGEN:934595",
          "OMIM:617302",
          "UMLS:C4310628"
        ],
        "synonyms": [
          "OPA11",
          "YME1L1 autosomal recessive isolated optic atrophy",
          "autosomal recessive isolated optic atrophy caused by mutation in YME1L1",
          "optic atrophy 11",
          "optic atrophy type 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015011"
    },
    {
      "id": 17538,
      "label": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        6982,
        18933,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000587",
          "MEDGEN:928493",
          "MESH:C535617",
          "Orphanet:2773",
          "SCTID:722110003",
          "UMLS:C4302824"
        ],
        "synonyms": [
          "Al Gazali-Nair syndrome",
          "Al Gazali Sabrinathan Nair syndrome",
          "osteogenesis imperfecta retinopathy seizures intellectual deficit"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017196"
    },
    {
      "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"
    },
    {
      "id": 20141,
      "label": "optic atrophy 10 with or without ataxia, intellectual disability, and seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111434",
          "GARD:0018200",
          "MEDGEN:905727",
          "OMIM:616732",
          "UMLS:C4225227"
        ],
        "synonyms": [
          "OPA10",
          "RTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizures",
          "RTN4IP1-related optic atrophy with or without neurological features",
          "optic atrophy 10 with or without ataxia, mental retardation, and seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020737"
    },
    {
      "id": 22678,
      "label": "optic atrophy 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256,
        24746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080840",
          "GARD:0016399",
          "MEDGEN:1720703",
          "OMIM:618977",
          "UMLS:C5436534"
        ],
        "synonyms": [
          "OPA12",
          "OPTIC ATROPHY 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033549"
    },
    {
      "id": 25757,
      "label": "optic atrophy 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026882",
          "MEDGEN:1851745",
          "OMIM:620550",
          "UMLS:C5882708"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957824"
    },
    {
      "id": 25774,
      "label": "optic atrophy 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026895",
          "MEDGEN:1849731",
          "OMIM:620583",
          "UMLS:C5882716"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957935"
    },
    {
      "id": 25781,
      "label": "optic atrophy 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026899",
          "MEDGEN:1851641",
          "OMIM:620629",
          "UMLS:C5882723"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957978"
    },
    {
      "id": 29303,
      "label": "ACO2-related optic atrophy with or without extraocular features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23256,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028153"
        ],
        "synonyms": [
          "ACO2-related optic atrophy with or without extraocular features",
          "optic atrophy 9",
          "infantile cerebellar-retinal degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration."
      },
      "child_count": 2,
      "reference_id": "MONDO:1060120"
    }
  ],
  "roots": [
    {
      "id": 3336,
      "label": "primary optic atrophy"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}