{
  "id": 14433,
  "label": "hereditary spastic paraplegia 51",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013401",
  "properties": {
    "xrefs": [
      "DOID:0110803",
      "GARD:0013737",
      "MEDGEN:462406",
      "NORD:1990",
      "OMIM:613744",
      "UMLS:C3151056"
    ],
    "synonyms": [
      "AP4E1 hereditary spastic paraplegia",
      "SPG51",
      "Spastic Paraplegia 51",
      "hereditary spastic paraplegia caused by mutation in AP4E1",
      "hereditary spastic paraplegia type 51",
      "cerebral palsy, spastic quadriplegic, 4",
      "cerebral palsy, spastic quadriplegic, 4, formerly",
      "spastic paraplegia 51, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene."
  },
  "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": 23918,
      "label": "AP-4 deficiency syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027995",
          "MEDGEN:1663055",
          "Orphanet:280763",
          "UMLS:C4755264"
        ],
        "synonyms": [
          "AP-4 deficiency syndrome"
        ],
        "definition": "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100176"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    },
    {
      "id": 23918,
      "label": "AP-4 deficiency syndrome"
    }
  ]
}