{
  "id": 17603,
  "label": "young-onset Parkinson disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017279",
  "properties": {
    "xrefs": [
      "DOID:0060894",
      "GARD:0016610",
      "MEDGEN:907947",
      "Orphanet:2828",
      "SCTID:715345007",
      "UMLS:C4275179"
    ],
    "synonyms": [
      "YOPD",
      "early-onset Parkinson disease",
      "early-onset Parkinson's disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 6901,
      "label": "Parkinson disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20335,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14330",
          "ICD10CM:G20",
          "ICD10WHO:G20",
          "ICD9:332",
          "ICD9:332.0",
          "MEDGEN:10590",
          "MESH:D010300",
          "NANDO:1200010",
          "NCIT:C26845",
          "OMIMPS:168600",
          "Orphanet:319705",
          "SCTID:49049000",
          "UMLS:C0030567",
          "birnlex:2098",
          "icd11.foundation:296066191"
        ],
        "synonyms": [
          "PD",
          "Parkinson disease",
          "Parkinson's disease",
          "paralysis agitans"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression."
      },
      "child_count": 12,
      "reference_id": "MONDO:0005180"
    }
  ],
  "children": [
    {
      "id": 3149,
      "label": "juvenile-onset Parkinson disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060893",
          "GARD:0022833",
          "MEDGEN:155699",
          "UMLS:C0752105"
        ],
        "synonyms": [
          "juvenile-onset Parkinson's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000828"
    },
    {
      "id": 11526,
      "label": "Parkinson disease 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018604",
          "MEDGEN:337173",
          "MESH:C564486",
          "OMIM:300557",
          "UMLS:C1845165"
        ],
        "synonyms": [
          "PARK12",
          "Parkinson disease 12",
          "Parkinson disease, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010360"
    },
    {
      "id": 11956,
      "label": "autosomal recessive juvenile Parkinson disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060368",
          "GARD:0009642",
          "MEDGEN:401500",
          "OMIM:600116",
          "UMLS:C1868675"
        ],
        "synonyms": [
          "PRKN young-onset Parkinson disease",
          "Parkinson disease, juvenile, type 2",
          "autosomal recessive juvenile Parkinson disease 2",
          "autosomal recessive juvenile Parkinson disease type 2",
          "young-onset Parkinson disease caused by mutation in PRKN",
          "JP",
          "PARK2",
          "PDJ",
          "Parkinson disease 2",
          "Parkinson disease 2, autosomal recessive juvenile",
          "Parkinson disease autosomal recessive, early onset",
          "Parkinson disease, juvenile, autosomal recessive",
          "Parkinsonism, early onset, with diurnal fluctuation",
          "Parkinsonism, early-onset, with diurnal fluctuation",
          "autosomal recessive juvenile Parkinson disease",
          "autosomal recessive juvenile Parkinson's disease 2",
          "juvenile parkinsonism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see Parkinson disease), secondary parkinsonism (see Parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010820"
    },
    {
      "id": 12341,
      "label": "Parkinson disease 3, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111250",
          "GARD:0008578",
          "MEDGEN:355499",
          "MESH:C566552",
          "OMIM:602404",
          "UMLS:C1865581"
        ],
        "synonyms": [
          "PARK3",
          "Parkinson disease 3, autosomal dominant",
          "Parkinson disease 3, autosomal dominant Lewy body",
          "Parkinson disease type 3",
          "autosomal dominant Parkinson disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011220"
    },
    {
      "id": 12709,
      "label": "autosomal recessive early-onset Parkinson disease 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060369",
          "GARD:0018605",
          "MEDGEN:342982",
          "MESH:C565276",
          "OMIM:605909",
          "UMLS:C1853833"
        ],
        "synonyms": [
          "PINK1 Parkinson disease",
          "Parkinson disease caused by mutation in PINK1",
          "autosomal recessive early-onset Parkinson disease 6",
          "PARK6",
          "Parkinson disease 6, autosomal recessive early-onset",
          "Parkinson disease 6, early onset",
          "Parkinson disease 6, early-onset",
          "Parkinson disease 6, late-onset, susceptibility to",
          "Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1",
          "autosomal recessive early-onset Parkinson disease type 6",
          "autosomal recessive early-onset Parkinson's disease 6",
          "early-onset Parkinson disease 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011613"
    },
    {
      "id": 12750,
      "label": "autosomal recessive early-onset Parkinson disease 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060370",
          "GARD:0018606",
          "MEDGEN:344049",
          "MESH:C565238",
          "OMIM:606324",
          "UMLS:C1853445"
        ],
        "synonyms": [
          "PARK7 Parkinson disease",
          "Parkinson disease caused by mutation in PARK7",
          "autosomal recessive early-onset Parkinson disease 7",
          "autosomal recessive early-onset Parkinson disease type 7",
          "PARK7",
          "Parkinson disease 7, autosomal recessive early-onset",
          "autosomal recessive early-onset Parkinson's disease 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011658"
    },
    {
      "id": 12824,
      "label": "Parkinson disease 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018607",
          "MEDGEN:339741",
          "MESH:C564653",
          "OMIM:606852",
          "UMLS:C1847360"
        ],
        "synonyms": [
          "PARK10",
          "Parkinson disease 10",
          "Parkinson disease, Age at onset of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011737"
    },
    {
      "id": 15239,
      "label": "early-onset Parkinson disease 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060898",
          "GARD:0018462",
          "MEDGEN:816154",
          "OMIM:615530",
          "UMLS:C3809824"
        ],
        "synonyms": [
          "Parkinson disease caused by mutation in SYNJ1",
          "SYNJ1 Parkinson disease",
          "early-onset Parkinson disease type 20",
          "PARK20",
          "Parkinson disease 20, early-onset",
          "early-onset Parkinson's disease 20"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014233"
    },
    {
      "id": 15784,
      "label": "autosomal recessive early-onset Parkinson disease 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060896",
          "GARD:0018610",
          "MEDGEN:896607",
          "OMIM:616840",
          "UMLS:C4225186"
        ],
        "synonyms": [
          "PARK23",
          "Parkinson disease 23, autosomal recessive early-onset",
          "Parkinson disease 23, autosomal recessive, early onset",
          "VPS13C young-onset Parkinson disease",
          "autosomal recessive early-onset Parkinson disease 23",
          "autosomal recessive early-onset Parksinson disease type 23",
          "young-onset Parkinson disease caused by mutation in VPS13C",
          "autosomal recessive early-onset Parkinson's disease 23"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014796"
    }
  ],
  "roots": [
    {
      "id": 6901,
      "label": "Parkinson disease"
    }
  ]
}