{
  "id": 12794,
  "label": "Kufor-Rakeb syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011706",
  "properties": {
    "xrefs": [
      "DOID:0060556",
      "GARD:0009174",
      "MEDGEN:338281",
      "MESH:C537177",
      "NORD:1959",
      "OMIM:606693",
      "Orphanet:306674",
      "UMLS:C1847640"
    ],
    "synonyms": [
      "Kufor Rakeb Syndrome",
      "Kufor-Rakeb syndrome",
      "PARK9",
      "KRPPD",
      "KRS",
      "Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia",
      "Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia",
      "Parkinson disease 9, autosomal recessive",
      "Parkinson disease 9, autosomal recessive, juvenile-onset",
      "Parkinson disease type 9",
      "ceroid lipofuscinosis, neuronal, 12",
      "park 9"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 3149,
      "label": "juvenile-onset Parkinson disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060893",
          "GARD:0022833",
          "MEDGEN:155699",
          "UMLS:C0752105"
        ],
        "synonyms": [
          "juvenile-onset Parkinson's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000828"
    },
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4393,
        4397,
        7073,
        16360,
        18954,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110734",
          "GARD:0011899",
          "MEDGEN:444156",
          "MESH:C538421",
          "NANDO:2100241",
          "OMIMPS:234200",
          "Orphanet:385",
          "UMLS:C2931845",
          "icd11.foundation:440483530"
        ],
        "synonyms": [
          "NBIA",
          "neurodegeneration with brain iron accumulation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."
      },
      "child_count": 84,
      "reference_id": "MONDO:0018307"
    }
  ],
  "children": [
    {
      "id": 18030,
      "label": "parkinsonism due to ATP13A2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12794,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017427",
          "MEDGEN:1687881",
          "Orphanet:314632",
          "SCTID:789657008",
          "UMLS:C5230619"
        ],
        "synonyms": [
          "CLN12 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017809"
    }
  ],
  "roots": [
    {
      "id": 3149,
      "label": "juvenile-onset Parkinson disease"
    },
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation"
    }
  ]
}