{
  "id": 11640,
  "label": "X-linked parkinsonism-spasticity syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010482",
  "properties": {
    "xrefs": [
      "DOID:0112105",
      "GARD:0017567",
      "MEDGEN:813052",
      "OMIM:300911",
      "Orphanet:363654",
      "UMLS:C3806722"
    ],
    "synonyms": [
      "Parkinsonism with spasticity, X-linked, X-linked recessive",
      "XPDS",
      "PARKINSONISM with spasticity, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20335,
      "label": "parkinsonian disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080855",
          "MEDGEN:66079",
          "MESH:D020734",
          "UMLS:C0242422"
        ],
        "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": 21,
      "reference_id": "MONDO:0021095"
    },
    {
      "id": 23888,
      "label": "ATP6AP2-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026062"
        ],
        "synonyms": [
          "ATP6AP2-related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100146"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20335,
      "label": "parkinsonian disorder"
    },
    {
      "id": 23888,
      "label": "ATP6AP2-related disorder"
    }
  ]
}