{
  "id": 9731,
  "label": "hereditary spastic paraplegia 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008438",
  "properties": {
    "xrefs": [
      "DOID:0110792",
      "GARD:0004925",
      "MEDGEN:401097",
      "MESH:C536865",
      "NCIT:C129981",
      "OMIM:182601",
      "Orphanet:100985",
      "SCTID:723820001",
      "UMLS:C1866855"
    ],
    "synonyms": [
      "SPAST hereditary spastic paraplegia",
      "SPG4",
      "autosomal dominant spastic paraplegia type 4",
      "hereditary spastic paraplegia 4",
      "hereditary spastic paraplegia caused by mutation in SPAST",
      "hereditary spastic paraplegia type 4",
      "FSP2",
      "familial spastic paraplegia autosomal dominant 2",
      "familial spastic paraplegia, autosomal dominant, 2",
      "spastic paraplegia 4",
      "spastic paraplegia 4, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset."
  },
  "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": 24248,
      "label": "SPAST-related motor disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657,
        24270
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,"
      },
      "child_count": 2,
      "reference_id": "MONDO:0100523"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    },
    {
      "id": 24248,
      "label": "SPAST-related motor disorder"
    }
  ]
}