{
  "id": 12591,
  "label": "hereditary spastic paraplegia 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011489",
  "properties": {
    "xrefs": [
      "DOID:0110765",
      "GARD:0009586",
      "MEDGEN:347618",
      "MESH:C537484",
      "OMIM:604805",
      "Orphanet:100993",
      "SCTID:763374004",
      "UMLS:C1858106"
    ],
    "synonyms": [
      "RTN2 hereditary spastic paraplegia",
      "SPG12",
      "autosomal dominant spastic paraplegia type 12",
      "hereditary spastic paraplegia caused by mutation in RTN2",
      "hereditary spastic paraplegia type 12",
      "spastic paraplegia 12",
      "spastic paraplegia 12, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus."
  },
  "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"
    }
  ]
}