{
  "id": 16860,
  "label": "atypical pantothenate kinase-associated neurodegeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016305",
  "properties": {
    "xrefs": [
      "GARD:0017115",
      "MEDGEN:1800044",
      "NANDO:1200536",
      "Orphanet:216873",
      "UMLS:C5568621"
    ],
    "synonyms": [
      "NBIA1, atypical form",
      "PKAN, atypical form",
      "neurodegeneration with brain iron accumulation type 1, atypical form"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10554,
      "label": "pantothenate kinase-associated neurodegeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18404
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3981",
          "GARD:0006564",
          "ICD10CM:G23.0",
          "ICD9:333.0",
          "MEDGEN:6708",
          "MESH:D006211",
          "NANDO:1200534",
          "NANDO:2200886",
          "NCIT:C84988",
          "NORD:1550",
          "OMIM:234200",
          "Orphanet:157850",
          "SCTID:2992000",
          "UMLS:C0018523"
        ],
        "synonyms": [
          "brain iron accumulation type I syndrome",
          "Hallervorden-Spatz disease",
          "Hallervorden-Spatz syndrome",
          "NBIA1",
          "PKAN",
          "neurodegeneration with brain iron accumulation 1",
          "neurodegeneration with brain iron accumulation type 1",
          "pantothenate kinase-associated neurodegeneration",
          "pigmentary pallidal degeneration",
          "Pkan neuroaxonal dystrophy, juvenile-onset",
          "neuroaxonal dystrophy, late infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009319"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10554,
      "label": "pantothenate kinase-associated neurodegeneration"
    }
  ]
}