{
  "id": 24248,
  "label": "SPAST-related motor disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100523",
  "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,"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4657,
      "label": "central nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:331",
          "EFO:0009386",
          "MEDGEN:892343",
          "MESH:D002493",
          "NCIT:C2934",
          "SCTID:23853001",
          "UMLS:C4021765"
        ],
        "synonyms": [
          "CNS disorder",
          "central nervous disease",
          "central nervous system disease",
          "central nervous system disease or disorder",
          "central nervous system disorder",
          "disease of central nervous system",
          "disease of the central nervous system",
          "disease or disorder of central nervous system",
          "disorder of central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease involving the central nervous system."
      },
      "child_count": 19,
      "reference_id": "MONDO:0002602"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9731,
      "label": "hereditary spastic paraplegia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        24248
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008438"
    }
  ],
  "roots": [
    {
      "id": 4657,
      "label": "central nervous system disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}