{
  "id": 11238,
  "label": "hereditary spastic paraplegia 23",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010046",
  "properties": {
    "xrefs": [
      "DOID:0110774",
      "GARD:0000336",
      "MEDGEN:167094",
      "MESH:C536859",
      "OMIM:270750",
      "Orphanet:101003",
      "SCTID:726608002",
      "UMLS:C0796019"
    ],
    "synonyms": [
      "DSTYK autosomal recessive complex spastic paraplegia",
      "Lison syndrome",
      "SPG23",
      "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK",
      "hereditary spastic paraplegia type 23",
      "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome",
      "spastic paraplegia 23",
      "spastic paraplegia with pigmentary abnormalities",
      "SPG 23",
      "autosomal recessive spastic paraplegia type 23",
      "spastic paraparesis, vitiligo, premature graying, characteristic facies",
      "spastic paraplegia and pigmentary abnormalities",
      "spastic paraplegia vitiligo premature graying and characteristic facies",
      "spastic paraplegia vitiligo premature greying and characteristic facies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32."
  },
  "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"
    }
  ]
}