{
  "id": 15294,
  "label": "neurodegeneration with brain iron accumulation 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014290",
  "properties": {
    "xrefs": [
      "DOID:0110740",
      "GARD:0012571",
      "MEDGEN:1387791",
      "OMIM:615643",
      "Orphanet:397725",
      "SCTID:732264002",
      "UMLS:C4517377"
    ],
    "synonyms": [
      "COASY neurodegeneration with brain iron accumulation",
      "CoPAN",
      "NBIA6",
      "neurodegeneration with brain iron accumulation 6",
      "neurodegeneration with brain iron accumulation caused by mutation in COASY",
      "neurodegeneration with brain iron accumulation due to COASY mutation",
      "neurodegeneration with brain iron accumulation type 6",
      "COASY protein-associated neurodegeneration"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder."
  },
  "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"
    }
  ]
}