{
  "id": 12513,
  "label": "hereditary spastic paraplegia 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011408",
  "properties": {
    "xrefs": [
      "DOID:0110763",
      "GARD:0009590",
      "MEDGEN:349003",
      "MESH:C537482",
      "OMIM:604187",
      "Orphanet:100991",
      "SCTID:732948003",
      "UMLS:C1858712"
    ],
    "synonyms": [
      "KIF5A hereditary spastic paraplegia",
      "SPG10",
      "autosomal dominant spastic paraplegia type 10",
      "hereditary spastic paraplegia caused by mutation in KIF5A",
      "hereditary spastic paraplegia type 10",
      "autosomal dominant spastic paraplegia",
      "spastic paraplegia 10",
      "spastic paraplegia 10 with or without peripheral neuropathy",
      "spastic paraplegia 10, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case."
  },
  "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": 24348,
      "label": "KIF5A-related neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "KIF5A-RD",
          "KIF5A-related disorder",
          "kinesin family member 5A (KIF5A)-related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any nervous system disorder in which the cause of the disease is a variation in the KIF5A gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100629"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    },
    {
      "id": 24348,
      "label": "KIF5A-related neurological disorder"
    }
  ]
}