{
  "id": 17599,
  "label": "spastic paraplegia-facial-cutaneous lesions syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017275",
  "properties": {
    "xrefs": [
      "GARD:0000806",
      "MEDGEN:419453",
      "MESH:C537797",
      "Orphanet:2819",
      "SCTID:763403007",
      "UMLS:C2931617"
    ],
    "synonyms": [
      "Bahemuka-Brown syndrome",
      "Bahemuka Brown syndrome",
      "spastic paraplegia facial cutaneous lesions"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982."
  },
  "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"
    }
  ]
}