{
  "id": 14697,
  "label": "neurodegeneration with brain iron accumulation 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013674",
  "properties": {
    "xrefs": [
      "DOID:0110738",
      "GARD:0012569",
      "ICD9:333.0",
      "MEDGEN:482001",
      "NANDO:1200540",
      "NCIT:C175707",
      "OMIM:614298",
      "Orphanet:289560",
      "SCTID:709415008",
      "UMLS:C3280371"
    ],
    "synonyms": [
      "C19orf12 neurodegeneration with brain iron accumulation",
      "MPAN",
      "NBIA due to C19orf12 mutation",
      "NBIA4",
      "mitochondrial Protein-associated neurodegeneration",
      "neurodegeneration with brain iron accumulation 4",
      "neurodegeneration with brain iron accumulation caused by mutation in C19orf12",
      "neurodegeneration with brain iron accumulation due to C19orf12 mutation",
      "neurodegeneration with brain iron accumulation type 4",
      "mitochondrial membrane protein-associated neurodegeneration"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities."
  },
  "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"
    }
  ]
}