{
  "id": 24176,
  "label": "FLVCR1-related retinopathy with or without ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100449",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "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 instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    },
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019415",
          "MEDGEN:1842627",
          "Orphanet:98098",
          "UMLS:C5681515"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020046"
    }
  ],
  "children": [
    {
      "id": 13240,
      "label": "posterior column ataxia-retinitis pigmentosa syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24176
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012177"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    },
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia"
    }
  ]
}