{
  "id": 23891,
  "label": "PNPLA6-related spastic paraplegia with or without ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100149",
  "properties": {
    "xrefs": [
      "GARD:0026063"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13827,
      "label": "hereditary spastic paraplegia 39",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16082,
        16607,
        18270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110790",
          "GARD:0004924",
          "MEDGEN:383142",
          "MESH:C567433",
          "OMIM:612020",
          "Orphanet:139480",
          "SCTID:719103009",
          "UMLS:C2677586"
        ],
        "synonyms": [
          "NTE-related motor neuron disorder",
          "NTEMND",
          "PNPLA6 hereditary spastic paraplegia",
          "SPG39",
          "autosomal recessive spastic paraplegia type 39",
          "hereditary spastic paraplegia caused by mutation in PNPLA6",
          "hereditary spastic paraplegia type 39",
          "spastic paraplegia due to NTE mutation",
          "spastic paraplegia due to neuropathy target esterase mutation",
          "NTE related motor neuron disorder",
          "spastic paraplegia 39",
          "spastic paraplegia 39, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting."
      },
      "child_count": 3,
      "reference_id": "MONDO:0012787"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13827,
      "label": "hereditary spastic paraplegia 39"
    }
  ]
}