{
  "id": 15028,
  "label": "hereditary spastic paraplegia 54",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014018",
  "properties": {
    "xrefs": [
      "DOID:0110806",
      "GARD:0017475",
      "MEDGEN:761341",
      "OMIM:615033",
      "Orphanet:320380",
      "SCTID:723824005",
      "UMLS:C3539495"
    ],
    "synonyms": [
      "DDHD2 autosomal recessive complex spastic paraplegia",
      "SPG54",
      "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2",
      "autosomal recessive spastic paraplegia type 54",
      "hereditary spastic paraplegia type 54",
      "spastic paraplegia 54, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2."
  },
  "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"
    }
  ]
}