{
  "id": 13827,
  "label": "hereditary spastic paraplegia 39",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012787",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019823",
          "MEDGEN:581446",
          "NANDO:1200054",
          "Orphanet:102013",
          "SCTID:230261006",
          "UMLS:C0393556"
        ],
        "synonyms": [
          "Complex HSP",
          "Complex SPG",
          "Complex familial spastic paraplegia",
          "complicated HSP",
          "complicated SPG",
          "complicated familial spastic paraplegia",
          "complicated hereditary spastic paraplegia",
          "syndrome associated with hereditary spastic paraplegia",
          "syndromic hereditary spastic paraplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary spastic paraplegia that is part of a larger syndrome."
      },
      "child_count": 100,
      "reference_id": "MONDO:0015150"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021516",
          "MEDGEN:1843236",
          "Orphanet:352301",
          "UMLS:C5680990"
        ]
      },
      "child_count": 17,
      "reference_id": "MONDO:0018117"
    }
  ],
  "children": [
    {
      "id": 23891,
      "label": "PNPLA6-related spastic paraplegia with or without ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13827
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100149"
    }
  ],
  "roots": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    }
  ]
}