{
  "id": 11338,
  "label": "Troyer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010156",
  "properties": {
    "xrefs": [
      "DOID:0050886",
      "GARD:0005372",
      "ICD9:335.29",
      "MEDGEN:97950",
      "MESH:C536858",
      "OMIM:275900",
      "Orphanet:101000",
      "SCTID:230264003",
      "UMLS:C0393559"
    ],
    "synonyms": [
      "SPG20",
      "Troyer syndrome",
      "autosomal recessive spastic paraplegia type 20",
      "childhood-onset spastic paraparesis-distal muscle wasting syndrome",
      "spastic paraplegia 20 (Troyer syndrome)",
      "Cross-McKusick syndrome",
      "spastic paraparesis, childhood-onset, with distal muscle wasting",
      "spastic paraplegia 20",
      "spastic paraplegia 20, autosomal recessive",
      "spastic paraplegia, autosomal recessive, Troyer type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin."
  },
  "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"
    }
  ]
}