{
  "id": 9736,
  "label": "spastic paraplegia-precocious puberty syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008443",
  "properties": {
    "xrefs": [
      "GARD:0004918",
      "MEDGEN:401096",
      "MESH:C536874",
      "OMIM:182820",
      "Orphanet:2826",
      "UMLS:C1866850"
    ],
    "synonyms": [
      "familial spastic paraplegia, intellectual disability, and precocious puberty",
      "familial spastic paraplegia, mental retardation, and precocious puberty",
      "precocious puberty with spastic paraplegia",
      "spastic paraplegia with precocious puberty"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019770",
          "MEDGEN:1842369",
          "Orphanet:100979",
          "UMLS:C5680379"
        ],
        "synonyms": [
          "autosomal dominant complex HSP",
          "autosomal dominant complex SPG",
          "autosomal dominant complex hereditary spastic paraplegia",
          "autosomal dominant complicated HSP",
          "autosomal dominant complicated SPG",
          "autosomal dominant complicated spastic paraplegia",
          "complex hereditary spastic paraplegia, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of complex hereditary spastic paraplegia."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015087"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia"
    }
  ]
}