{
  "id": 24699,
  "label": "spastic paraplegia 18b, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700309",
  "properties": {
    "xrefs": [
      "DOID:0070641",
      "GARD:0028012",
      "OMIM:611225"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 13683,
      "label": "hereditary spastic paraplegia 18"
    }
  ]
}