{
  "id": 15026,
  "label": "hereditary spastic paraplegia 49",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014016",
  "properties": {
    "xrefs": [
      "DOID:0110801",
      "GARD:0013568",
      "MEDGEN:762260",
      "OMIM:615031",
      "Orphanet:320385",
      "UMLS:C3542549"
    ],
    "synonyms": [
      "SPG49",
      "TECPR2 hereditary spastic paraplegia",
      "autosomal recessive spastic paraplegia type 49",
      "hereditary spastic paraplegia 49",
      "hereditary spastic paraplegia caused by mutation in TECPR2",
      "hereditary spastic paraplegia type 49",
      "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay",
      "spastic paraplegia 49, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019823",
          "MEDGEN:581446",
          "NANDO:1200054",
          "Orphanet:102013",
          "SCTID:230261006",
          "UMLS:C0393556"
        ],
        "synonyms": [
          "Complex HSP",
          "Complex SPG",
          "Complex familial spastic paraplegia",
          "complicated HSP",
          "complicated SPG",
          "complicated familial spastic paraplegia",
          "complicated hereditary spastic paraplegia",
          "syndrome associated with hereditary spastic paraplegia",
          "syndromic hereditary spastic paraplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary spastic paraplegia that is part of a larger syndrome."
      },
      "child_count": 100,
      "reference_id": "MONDO:0015150"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia"
    }
  ]
}