{
  "id": 15696,
  "label": "autosomal recessive complex spastic paraplegia type 9B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014702",
  "properties": {
    "xrefs": [
      "DOID:0110825",
      "GARD:0017770",
      "MEDGEN:1800403",
      "OMIM:616586",
      "Orphanet:447760",
      "UMLS:C5568980"
    ],
    "synonyms": [
      "ALDH18A1 autosomal recessive complex spastic paraplegia",
      "AR-SPG9B",
      "SPG9B",
      "autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1",
      "hereditary spastic paraplegia type 9B",
      "hereditary spastic paraplegia 9B",
      "spastic paraplegia 9B, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene."
  },
  "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"
    },
    {
      "id": 23875,
      "label": "P5CS deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17672,
        17673
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026056"
        ],
        "synonyms": [
          "P5CS deficiency",
          "delta1-pyrroline-5-carboxylate synthetase deficiency"
        ],
        "definition": "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100126"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia"
    },
    {
      "id": 23875,
      "label": "P5CS deficiency"
    }
  ]
}