{
  "id": 25742,
  "label": "spastic paraplegia 18a, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0957788",
  "properties": {
    "xrefs": [
      "DOID:0070640",
      "GARD:0026873",
      "MEDGEN:1844217",
      "OMIM:620512",
      "UMLS:C5882694"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13683,
      "label": "hereditary spastic paraplegia 18",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110771",
          "GARD:0004922",
          "MEDGEN:442343",
          "MESH:C567628",
          "Orphanet:209951",
          "SCTID:732932004",
          "UMLS:C2749936"
        ],
        "synonyms": [
          "ERLIN2 autosomal recessive complex spastic paraplegia",
          "SPG18",
          "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2",
          "autosomal recessive spastic paraplegia 18",
          "autosomal recessive spastic paraplegia type 18",
          "hereditary spastic paraplegia type 18",
          "intellectual disability, motor dysfunction and joint contractures",
          "intellectual disability, motor dysfunction, and Joint contractures",
          "spastic paraplegia 18",
          "spastic paraplegia 18, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2."
      },
      "child_count": 2,
      "reference_id": "MONDO:0012639"
    },
    {
      "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": 13683,
      "label": "hereditary spastic paraplegia 18"
    },
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia"
    }
  ]
}