{
  "id": 12630,
  "label": "hereditary spastic paraplegia 13",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011532",
  "properties": {
    "xrefs": [
      "DOID:0110766",
      "GARD:0009616",
      "MEDGEN:344289",
      "MESH:C537485",
      "OMIM:605280",
      "Orphanet:100994",
      "UMLS:C1854467"
    ],
    "synonyms": [
      "HSPD1 hereditary spastic paraplegia",
      "SPG13",
      "hereditary spastic paraplegia caused by mutation in HSPD1",
      "hereditary spastic paraplegia type 13",
      "autosomal dominant spastic paraplegia type 13",
      "spastic paraplegia 13",
      "spastic paraplegia 13, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5637,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2476",
          "GARD:0006637",
          "ICD10CM:G11.4",
          "ICD9:334.1",
          "MEDGEN:20844",
          "MESH:D015419",
          "MedDRA:10019903",
          "NANDO:1200052",
          "NCIT:C140267",
          "NORD:1238",
          "OMIMPS:303350",
          "Orphanet:685",
          "SCTID:39912006",
          "UMLS:C0037773",
          "icd11.foundation:810807375"
        ],
        "synonyms": [
          "spastic paraplegia",
          "HSP",
          "SPG",
          "Strümpell-Lorrain disease",
          "familial spastic paraplegia",
          "hereditary spastic paraparesis",
          "FSP",
          "familial spastic paraparesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."
      },
      "child_count": 135,
      "reference_id": "MONDO:0019064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    }
  ]
}