{
  "id": 15713,
  "label": "autosomal dominant optic atrophy plus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014720",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": 23488,
      "label": "mitochondrial disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027984",
          "MEDGEN:155901",
          "NANDO:1200173",
          "NANDO:2100163",
          "UMLS:C0751651"
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0044970"
    }
  ],
  "children": [
    {
      "id": 8819,
      "label": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015057",
          "MEDGEN:478179",
          "OMIM:125250",
          "UMLS:C3276549"
        ],
        "synonyms": [
          "optic atrophy plus syndrome",
          "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
          "dominant optic atrophy plus syndrome",
          "optic atrophy 1 and deafness"
        ],
        "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:0007429"
    },
    {
      "id": 9443,
      "label": "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000402",
          "MEDGEN:331597",
          "MESH:C563497",
          "OMIM:165199",
          "UMLS:C1833831"
        ],
        "synonyms": [
          "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant"
        ],
        "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:0008131"
    },
    {
      "id": 12164,
      "label": "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15713,
        19535,
        24400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001188",
          "MEDGEN:318633",
          "MESH:C535351",
          "NANDO:1200526",
          "OMIM:601338",
          "Orphanet:1171",
          "SCTID:720634003",
          "UMLS:C1832466"
        ],
        "synonyms": [
          "CAPOS syndrome",
          "CAPOS",
          "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss",
          "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss",
          "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss"
        ],
        "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": "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011038"
    },
    {
      "id": 21514,
      "label": "optic atrophy 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111439",
          "GARD:0016148",
          "MEDGEN:898923",
          "OMIM:616648",
          "UMLS:C4085249"
        ],
        "synonyms": [
          "OPA8",
          "optic atrophy 8"
        ],
        "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:0024569"
    }
  ],
  "roots": [
    {
      "id": 19770,
      "label": "autosomal dominant optic atrophy"
    },
    {
      "id": 23488,
      "label": "mitochondrial disease"
    }
  ]
}