{
  "id": 10554,
  "label": "pantothenate kinase-associated neurodegeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009319",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 16859,
      "label": "classic pantothenate kinase-associated neurodegeneration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10554
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017114",
          "MEDGEN:1826057",
          "NANDO:1200535",
          "Orphanet:216866",
          "UMLS:C5679812"
        ],
        "synonyms": [
          "NBIA1, classic form",
          "PKAN, classic form",
          "neurodegeneration with brain iron accumulation type 1, classic form"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016304"
    },
    {
      "id": 16860,
      "label": "atypical pantothenate kinase-associated neurodegeneration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10554
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016305"
    }
  ],
  "roots": [
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation"
    }
  ]
}