{
  "id": 14098,
  "label": "autosomal recessive Parkinson disease 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013060",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9508,
      "label": "late-onset Parkinson disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060892",
          "GARD:0017684",
          "MEDGEN:463618",
          "OMIM:168600",
          "Orphanet:411602",
          "SCTID:716662004",
          "UMLS:C3160718"
        ],
        "synonyms": [
          "LOPD",
          "PARK",
          "PD",
          "Parkinson disease, age of onset, modifier, Multifactorial",
          "Parkinson disease, late-onset",
          "Parkinson disease, late-onset, susceptibility to, Multifactorial",
          "Parkinson disease, susceptibility to, Multifactorial",
          "autosomal dominant late-onset Parkinson disease",
          "hereditary late onset Parkinson disease",
          "hereditary late-onset Parkinson disease",
          "late-onset Parkinson disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A Parkinson disease that begins after around the age of 50."
      },
      "child_count": 7,
      "reference_id": "MONDO:0008199"
    },
    {
      "id": 18173,
      "label": "PLA2G6-associated neurodegeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18404
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017998"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9508,
      "label": "late-onset Parkinson disease"
    },
    {
      "id": 18173,
      "label": "PLA2G6-associated neurodegeneration"
    }
  ]
}