{
  "id": 15566,
  "label": "hereditary spastic paraplegia 73",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014568",
  "properties": {
    "xrefs": [
      "DOID:0110818",
      "GARD:0017763",
      "MEDGEN:1800404",
      "OMIM:616282",
      "Orphanet:444099",
      "UMLS:C5568981"
    ],
    "synonyms": [
      "CPT1C autosomal dominant pure spastic paraplegia",
      "SPG73",
      "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C",
      "autosomal dominant spastic paraplegia type 73",
      "hereditary spastic paraplegia type 73",
      "spastic paraplegia 73, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16081,
      "label": "pure hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019822",
          "MEDGEN:581445",
          "NANDO:1200053",
          "Orphanet:102012",
          "SCTID:230260007",
          "UMLS:C0393555"
        ],
        "synonyms": [
          "Pure HSP",
          "Pure SPG",
          "Pure familial spastic paraplegia",
          "uncomplicated HSP",
          "uncomplicated SPG",
          "uncomplicated familial spastic paraplegia",
          "uncomplicated hereditary spastic paraplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0015149"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16081,
      "label": "pure hereditary spastic paraplegia"
    }
  ]
}