{
  "id": 18173,
  "label": "PLA2G6-associated neurodegeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017998",
  "properties": {
    "xrefs": [
      "GARD:0012567",
      "NORD:1302",
      "Orphanet:329303"
    ],
    "synonyms": [
      "PLA2G6 neurodegeneration with brain iron accumulation",
      "PLAN",
      "neurodegeneration with brain iron accumulation caused by mutation in PLA2G6"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 13494,
      "label": "neurodegeneration with brain iron accumulation 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18173
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110736",
          "GARD:0010688",
          "MEDGEN:346658",
          "NANDO:1200538",
          "OMIM:610217",
          "UMLS:C1857747"
        ],
        "synonyms": [
          "NBIA2B",
          "NBIA2b",
          "neuroaxonal dystrophy, atypical",
          "neurodegeneration with brain iron accumulation 2B",
          "neurodegeneration with brain iron accumulation type 2B",
          "neurodegeneration with brain iron accumulation type 2b",
          "neurodegeneration with brain iron accumulation, Pla2g6-related",
          "Karak syndrome",
          "atypical neuroaxonal dystrophy",
          "early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline",
          "neurodegeneration with brain iron accumulation, Pla2G6-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012444"
    },
    {
      "id": 14098,
      "label": "autosomal recessive Parkinson disease 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9508,
        18173
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060900",
          "GARD:0012568",
          "MEDGEN:414488",
          "MESH:C567844",
          "OMIM:612953",
          "Orphanet:199351",
          "SCTID:720466001",
          "UMLS:C2751842"
        ],
        "synonyms": [
          "PARK14",
          "PLA2G6 hereditary late onset Parkinson disease",
          "PLA2G6-related dystonia-parkinsonism",
          "autosomal recessive Parkinson disease type 14",
          "dystonia-parkinsonism, Paisan-Ruiz type",
          "hereditary late onset Parkinson disease caused by mutation in PLA2G6",
          "Parkinson disease 14, autosomal recessive",
          "adult-onset dystonia - parkinsonism",
          "autosomal recessive Parkinson's disease 14",
          "dystonia-Parkinsonism, adult-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013060"
    },
    {
      "id": 21414,
      "label": "neurodegeneration with brain iron accumulation 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18173,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110735",
          "GARD:0003957",
          "ICD9:330.8",
          "MEDGEN:82852",
          "MESH:C536071",
          "NANDO:1200537",
          "NCIT:C84927",
          "OMIM:256600",
          "Orphanet:35069",
          "SCTID:52713000",
          "UMLS:C0270724"
        ],
        "synonyms": [
          "Seitelberger disease",
          "INAD",
          "NBIA2A",
          "NBIA2a",
          "PLAN",
          "inaD",
          "infantile neuroaxonal dystrophy",
          "neurodegeneration with brain iron accumulation 2A",
          "neurodegeneration with brain iron accumulation type 2A",
          "neurodegeneration with brain iron accumulation type 2a",
          "neurodegeneration, PLA2G6-associated",
          "neurodegeneration, Pla2G6-associated",
          "neurodegeneration, Pla2g6-associated",
          "phospholipase A2-associated neurodegeneration",
          "Hunter Carpenter Macdonald syndrome",
          "Hunter-Carpenter-McDonald syndrome",
          "INAD1",
          "KARAK syndrome, included",
          "infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy",
          "neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene",
          "neuroaxonal dystrophy, infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024457"
    }
  ],
  "roots": [
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation"
    }
  ]
}