{
  "id": 11634,
  "label": "neurodegeneration with brain iron accumulation 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010476",
  "properties": {
    "xrefs": [
      "DOID:0110739",
      "GARD:0012570",
      "MEDGEN:763887",
      "NCIT:C175210",
      "OMIM:300894",
      "Orphanet:329284",
      "SCTID:732959007",
      "UMLS:C3550973"
    ],
    "synonyms": [
      "BPAN",
      "NBIA5",
      "SENDA",
      "WDR45 neurodegeneration with brain iron accumulation",
      "beta-propeller protein-associated neurodegeneration",
      "neurodegeneration with brain iron accumulation 5",
      "neurodegeneration with brain iron accumulation 5, X-linked dominant",
      "neurodegeneration with brain iron accumulation caused by mutation in WDR45",
      "neurodegeneration with brain iron accumulation type 5",
      "static encephalopathy Of childhood with neurodegeneration In adulthood",
      "static encephalopathy of childhood with neurdegeneration in adulthood",
      "neurodegeneration with brain iron accululation 5",
      "static encephalopathy of childhood with neurodegeneration in adulthood"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation"
    }
  ]
}