{
  "id": 12164,
  "label": "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011038",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19535,
      "label": "autosomal dominant cerebellar ataxia type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019252",
          "MEDGEN:1842696",
          "Orphanet:94145",
          "UMLS:C5680259"
        ],
        "synonyms": [
          "ADCA1",
          "ADCAI",
          "autosomal dominant cerebellar ataxia type 1",
          "cerebellar plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019792"
    },
    {
      "id": 24400,
      "label": "ATP1A3-associated neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "ATP1A3 neurological disorder",
          "ATP1A3 related neurological disorder",
          "neurological disorder caused by mutation in ATP1A3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700002"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 15713,
      "label": "autosomal dominant optic atrophy plus syndrome"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    },
    {
      "id": 24400,
      "label": "ATP1A3-associated neurological disorder"
    }
  ]
}