{
  "id": 19770,
  "label": "autosomal dominant optic atrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020250",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 9445,
      "label": "optic atrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        19770
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111433",
          "GARD:0010203",
          "MEDGEN:371657",
          "MESH:C537128",
          "OMIM:165300",
          "Orphanet:67036",
          "SCTID:719517009",
          "UMLS:C1833809"
        ],
        "synonyms": [
          "OPA3, autosomal dominant",
          "autosomal dominant optic atrophy type 3",
          "optic atrophy 3",
          "OPA3",
          "optic atrophy 3 with cataract",
          "optic atrophy 3, autosomal dominant",
          "optic atrophy and cataract, autosomal dominant",
          "optic atrophy, cataract, and neurologic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008133"
    },
    {
      "id": 9446,
      "label": "autosomal dominant optic atrophy, classic form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        19770
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111441",
          "GARD:0009890",
          "MEDGEN:137902",
          "OMIM:165500",
          "Orphanet:98673",
          "SCTID:717336005",
          "UMLS:C0338508"
        ],
        "synonyms": [
          "Kjer optic atrophy",
          "autosomal dominant optic atrophy, Kjer type",
          "optic atrophy type 1",
          "Kjer-type optic atrophy",
          "OAK",
          "OPA1",
          "optic atrophy 1",
          "optic atrophy, Kjer type",
          "optic atrophy, juvenile"
        ],
        "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": "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008134"
    },
    {
      "id": 13591,
      "label": "optic atrophy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19770
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111438",
          "GARD:0010201",
          "MEDGEN:377837",
          "MESH:C537126",
          "OMIM:610708",
          "UMLS:C1853139"
        ],
        "synonyms": [
          "OPA5",
          "optic atrophy 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012543"
    },
    {
      "id": 15713,
      "label": "autosomal dominant optic atrophy plus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19770,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111340",
          "GARD:0005243",
          "Orphanet:1215",
          "SCTID:715374003",
          "icd11.foundation:1149710475"
        ],
        "synonyms": [
          "DOA+",
          "optic atrophy type 8",
          "optic atrophy-deafness-polyneuropathy-myopathy syndrome",
          "Treft-Sanborn-Carey syndrome",
          "dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy",
          "optic atrophy - deafness- polyneuropathy - myopathy"
        ],
        "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": "Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness."
      },
      "child_count": 8,
      "reference_id": "MONDO:0014720"
    },
    {
      "id": 17116,
      "label": "autosomal dominant optic atrophy and peripheral neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        19770
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020686",
          "MEDGEN:895207",
          "Orphanet:250932",
          "UMLS:C4273829"
        ],
        "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": "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016646"
    },
    {
      "id": 20764,
      "label": "Al Gazali Khidr Prem Chandran syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        8714,
        19770
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000586",
          "MEDGEN:419678",
          "MESH:C535616",
          "UMLS:C2930951"
        ],
        "synonyms": [
          "cherubism, optic atrophy and short stature"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021838"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19769,
      "label": "hereditary optic neuropathy"
    },
    {
      "id": 23256,
      "label": "hereditary optic atrophy"
    }
  ]
}