{
  "id": 14377,
  "label": "hereditary spastic paraplegia 48",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013342",
  "properties": {
    "xrefs": [
      "DOID:0110800",
      "GARD:0017378",
      "MEDGEN:462251",
      "OMIM:613647",
      "Orphanet:306511",
      "SCTID:763367009",
      "UMLS:C3150901"
    ],
    "synonyms": [
      "AP5Z1 hereditary spastic paraplegia",
      "SPG48",
      "autosomal recessive spastic paraplegia type 48",
      "hereditary spastic paraplegia caused by mutation in AP5Z1",
      "hereditary spastic paraplegia type 48",
      "spastic paraplegia 48, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4625,
      "label": "lysosomal storage disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3211",
          "GARD:0018884",
          "MEDGEN:43098",
          "MESH:D016464",
          "NANDO:1200055",
          "NANDO:2100165",
          "NCIT:C61250",
          "Orphanet:68366",
          "SCTID:23585005",
          "SCTID:28821000119102",
          "UMLS:C0085078",
          "icd11.foundation:656131403"
        ],
        "synonyms": [
          "disorder of lysosomal enzymes",
          "lysosomal disease",
          "lysosomal disorder",
          "lysosomal storage disorder",
          "lysosome disease",
          "lysosome disorder",
          "phospholipidosis"
        ],
        "definition": "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins."
      },
      "child_count": 11,
      "reference_id": "MONDO:0002561"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4625,
      "label": "lysosomal storage disease"
    },
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    }
  ]
}