{
  "id": 13240,
  "label": "posterior column ataxia-retinitis pigmentosa syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012177",
  "properties": {
    "xrefs": [
      "DOID:0061157",
      "GARD:0009898",
      "MEDGEN:324636",
      "MESH:C536343",
      "OMIM:609033",
      "Orphanet:88628",
      "SCTID:724065003",
      "UMLS:C1836916"
    ],
    "synonyms": [
      "PCARP",
      "ataxia, posterior column, with retinitis pigmentosa",
      "autosomal recessive posterior column ataxia and retinitis pigmentosa",
      "AXPC1",
      "POSTERIOR column ataxia with retinitis pigmentosa",
      "Pcarp"
    ],
    "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": "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24176,
      "label": "FLVCR1-related retinopathy with or without ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000,
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026224"
        ],
        "synonyms": [
          "FLVCR1 retinopathy with or without ataxia",
          "AXPC1",
          "PCARP",
          "ataxia, posterior column, with retinitis pigmentosa",
          "autosomal recessive posterior column ataxia and retinitis pigmentosa",
          "posterior column ataxia with retinitis pigmentosa",
          "posterior column ataxia-retinitis pigmentosa syndrome"
        ],
        "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": "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100449"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24176,
      "label": "FLVCR1-related retinopathy with or without ataxia"
    }
  ]
}