{
  "id": 11252,
  "label": "corneal-cerebellar syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010063",
  "properties": {
    "xrefs": [
      "GARD:0001525",
      "MEDGEN:341379",
      "MESH:C535472",
      "OMIM:271310",
      "Orphanet:3177",
      "SCTID:720750004",
      "UMLS:C1849087",
      "icd11.foundation:577494924"
    ],
    "synonyms": [
      "Der Kaloustian-Jarudi-Khoury syndrome",
      "corneal-cerebellar syndrome",
      "spinocerebellar degeneration-corneal dystrophy syndrome",
      "Der Kaloustian Jarudi Khoury syndrome",
      "corneal cerebellar syndrome",
      "corneal dystrophy with spinocerebellar Degeneration",
      "spinocerebellar degeneration and corneal dystrophy",
      "spinocerebellar degeneration corneal dystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6639,
      "label": "eye degenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9799",
          "ICD10CM:H44.5",
          "ICD9:360.2",
          "ICD9:360.20",
          "ICD9:360.29",
          "ICD9:360.4",
          "ICD9:360.40",
          "MEDGEN:509655",
          "SCTID:62585004",
          "UMLS:C0154777"
        ],
        "synonyms": [
          "degenerative disorder of eye",
          "eye neurodegenerative disease",
          "eyeball of camera-type eye neurodegenerative disease",
          "neurodegenerative disease of eyeball of camera-type eye",
          "degenerative disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A neurodegenerative disease that involves the eye."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004884"
    },
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6639,
      "label": "eye degenerative disorder"
    },
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}