{
  "id": 12733,
  "label": "neuroferritinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011638",
  "properties": {
    "xrefs": [
      "DOID:0110737",
      "GARD:0010686",
      "ICD9:333.0",
      "MEDGEN:381211",
      "MESH:C548080",
      "NANDO:1200539",
      "NANDO:1200542",
      "OMIM:606159",
      "Orphanet:157846",
      "SCTID:699299001",
      "UMLS:C1853578"
    ],
    "synonyms": [
      "NBIA3",
      "adult basal ganglia disease",
      "ferritin-related neurodegeneration",
      "hereditary ferritinopathy",
      "neurodegeneration with brain iron accumulation type 3",
      "neuroferritinopathy",
      "basal ganglia disease adult-onset",
      "basal ganglia disease, adult-onset",
      "neurodegeneration with brain iron accumulation 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2754,
        16360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020029",
          "ICD9:333.99",
          "MEDGEN:777988",
          "MESH:C580174",
          "Orphanet:158266",
          "SCTID:702376003",
          "UMLS:C3711380"
        ],
        "synonyms": [
          "Huntington disease phenocopy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 20,
      "reference_id": "MONDO:0015548"
    },
    {
      "id": 17988,
      "label": "disorder of iron metabolism and transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021355",
          "MEDGEN:1826109",
          "Orphanet:309842",
          "UMLS:C5681031"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017763"
    },
    {
      "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": 16361,
      "label": "Huntington disease-like syndrome"
    },
    {
      "id": 17988,
      "label": "disorder of iron metabolism and transport"
    },
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation"
    }
  ]
}