{
  "id": 11236,
  "label": "hereditary spastic paraplegia 17",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010043",
  "properties": {
    "xrefs": [
      "DOID:0110770",
      "GARD:0004219",
      "MEDGEN:419034",
      "MESH:C536644",
      "OMIM:270685",
      "Orphanet:100998",
      "UMLS:C2931276"
    ],
    "synonyms": [
      "BSCL2 hereditary spastic paraplegia",
      "SPG17",
      "Silver spastic paraplegia syndrome",
      "Silver syndrome",
      "autosomal dominant spastic paraplegia type 17",
      "hereditary spastic paraplegia caused by mutation in BSCL2",
      "hereditary spastic paraplegia type 17",
      "spastic paraplegia with amyotrophy of hands and feet",
      "spastic paraplegia-amyotrophy of hands and feet",
      "spastic paraplegia 17",
      "spastic paraplegia 17, autosomal dominant"
    ],
    "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 BSCL2 gene."
  },
  "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"
    },
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3724,
        18822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111198",
          "GARD:0019926",
          "MEDGEN:1787720",
          "OMIMPS:182960",
          "Orphanet:140465",
          "UMLS:C5548212"
        ],
        "synonyms": [
          "autosomal dominant dHMN",
          "autosomal dominant distal hereditary motor neuropathy",
          "autosomal dominant distal spinal muscular atrophy",
          "distal hereditary motor neuropathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal hereditary motor neuropathy."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015362"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia"
    },
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant"
    }
  ]
}