{
  "id": 13683,
  "label": "hereditary spastic paraplegia 18",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012639",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 24699,
      "label": "spastic paraplegia 18b, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        13683
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070641",
          "GARD:0028012",
          "OMIM:611225"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700309"
    },
    {
      "id": 25742,
      "label": "spastic paraplegia 18a, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13683,
        16056
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957788"
    }
  ],
  "roots": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia"
    }
  ]
}