{
  "id": 10967,
  "label": "Niemann-Pick disease, type C1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009757",
  "properties": {
    "xrefs": [
      "DOID:0070113",
      "GARD:0024693",
      "MEDGEN:465922",
      "NCIT:C126864",
      "OMIM:257220",
      "SCTID:18927009",
      "SCTID:67855008",
      "UMLS:C3179455"
    ],
    "synonyms": [
      "Niemann-Pick disease, type C1",
      "type C1 Niemann-Pick disease",
      "NPC1",
      "Niemann-PICK disease, type C1",
      "Niemann-Pick disease type C1",
      "Niemann-Pick disease with cholesterol esterification block",
      "Niemann-Pick disease without sphingomyelinase deficiency",
      "Niemann-Pick disease, chronic neuronopathic form",
      "Niemann-Pick disease, nova Scotian type",
      "Niemann-Pick disease, subacute juvenile form",
      "Niemann-Pick disease, type C",
      "Niemann-Pick disease, type D",
      "neurovisceral storage disease with vertical supranuclear ophthalmoplegia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18901,
      "label": "Niemann-Pick disease type C",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4141,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007207",
          "ICD10CM:E75.242",
          "MEDGEN:67399",
          "MESH:D052556",
          "NANDO:1200063",
          "NORD:1509",
          "Orphanet:646",
          "SCTID:66751000",
          "UMLS:C0220756",
          "icd11.foundation:812702125"
        ],
        "synonyms": [
          "NPC",
          "Niemann Pick Disease Type C"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment."
      },
      "child_count": 14,
      "reference_id": "MONDO:0018982"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18901,
      "label": "Niemann-Pick disease type C"
    }
  ]
}