{
  "id": 18180,
  "label": "spastic paraplegia-Paget disease of bone syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018005",
  "properties": {
    "xrefs": [
      "GARD:0021491",
      "MEDGEN:1388986",
      "Orphanet:329475",
      "UMLS:C4511969"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019770",
          "MEDGEN:1842369",
          "Orphanet:100979",
          "UMLS:C5680379"
        ],
        "synonyms": [
          "autosomal dominant complex HSP",
          "autosomal dominant complex SPG",
          "autosomal dominant complex hereditary spastic paraplegia",
          "autosomal dominant complicated HSP",
          "autosomal dominant complicated SPG",
          "autosomal dominant complicated spastic paraplegia",
          "complex hereditary spastic paraplegia, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of complex hereditary spastic paraplegia."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015087"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia"
    }
  ]
}