{
  "id": 11239,
  "label": "hereditary spastic paraplegia 5A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010047",
  "properties": {
    "xrefs": [
      "DOID:0110810",
      "GARD:0004926",
      "MEDGEN:376521",
      "OMIM:270800",
      "Orphanet:100986",
      "SCTID:763373005",
      "UMLS:C1849115"
    ],
    "synonyms": [
      "CYP7B1 pure or complex autosomal recessive spastic paraplegia",
      "SPG5A",
      "autosomal recessive spastic paraplegia type 5A",
      "hereditary spastic paraplegia type 5A",
      "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1",
      "spastic paraplegia type 5B, recessive",
      "autosomal recessive spastic paraplegia",
      "spastic paraplegia 5A",
      "spastic paraplegia 5A, autosomal recessive",
      "spastic paraplegia type 5A"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5637,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2476",
          "GARD:0006637",
          "ICD10CM:G11.4",
          "ICD9:334.1",
          "MEDGEN:20844",
          "MESH:D015419",
          "MedDRA:10019903",
          "NANDO:1200052",
          "NCIT:C140267",
          "NORD:1238",
          "OMIMPS:303350",
          "Orphanet:685",
          "SCTID:39912006",
          "UMLS:C0037773",
          "icd11.foundation:810807375"
        ],
        "synonyms": [
          "spastic paraplegia",
          "HSP",
          "SPG",
          "Strümpell-Lorrain disease",
          "familial spastic paraplegia",
          "hereditary spastic paraparesis",
          "FSP",
          "familial spastic paraparesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."
      },
      "child_count": 135,
      "reference_id": "MONDO:0019064"
    },
    {
      "id": 29294,
      "label": "CYP7B1-related disorder of oxysterol accumulation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027439"
        ],
        "synonyms": [
          "CYP7B1-related disorder of oxysterol accumulation"
        ],
        "definition": "Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body."
      },
      "child_count": 2,
      "reference_id": "MONDO:1060107"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    },
    {
      "id": 29294,
      "label": "CYP7B1-related disorder of oxysterol accumulation"
    }
  ]
}