{
  "id": 9935,
  "label": "spinocerebellar ataxia 27A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008654",
  "properties": {
    "xrefs": [
      "GARD:0009603",
      "MESH:C537856",
      "OMIM:193003"
    ],
    "synonyms": [
      "NYS4",
      "NYSTAGMUS 4, congenital, autosomal dominant",
      "nystagmus 4, congenital, autosomal dominant",
      "vestibulocerebellar disorder with predominant ocular signs"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7341,
      "label": "congenital nystagmus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        6600,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9649",
          "EFO:0007217",
          "HP:0000639",
          "ICD10CM:H55.01",
          "ICD9:379.51",
          "MEDGEN:195995",
          "MESH:D020417",
          "OMIMPS:310700",
          "Orphanet:651",
          "SCTID:64635004",
          "UMLS:C0700501",
          "icd11.foundation:1626567380"
        ],
        "synonyms": [
          "nystagmus",
          "congenital idiopathic nystagmus",
          "congenital pathologic nystagmus",
          "motor congenital nystagmus",
          "nystagmus, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)"
      },
      "child_count": 30,
      "reference_id": "MONDO:0005712"
    },
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16360,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1441",
          "GARD:0004346",
          "ICD9:334.3",
          "MEDGEN:1684639",
          "NORD:825",
          "OMIMPS:164400",
          "Orphanet:99",
          "SCTID:129609000",
          "UMLS:C4087347"
        ],
        "synonyms": [
          "SCA",
          "spinocerebellar ataxia",
          "ADCA",
          "Autosomal Dominant Hereditary Ataxia",
          "autosomal dominant spinocerebellar ataxia",
          "cerebellar ataxia, autosomal dominant",
          "Pierre Marie cerebellar ataxia (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020380"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7341,
      "label": "congenital nystagmus"
    },
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia"
    }
  ]
}