{
  "id": 25105,
  "label": "chronic neurovisceral acid sphingomyelinase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0850058",
  "properties": {
    "xrefs": [
      "GARD:0022456",
      "ICD10CM:E75.244",
      "MEDGEN:1842316",
      "Orphanet:618891",
      "UMLS:C5539139"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4141,
      "label": "Niemann-Pick disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16345,
        19116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14504",
          "EFO:1001380",
          "GARD:0013334",
          "ICD10CM:E75.24",
          "MEDGEN:10348",
          "MESH:D009542",
          "NANDO:2200561",
          "NCIT:C61269",
          "SCTID:58459009",
          "UMLS:C0028064",
          "icd11.foundation:398872780"
        ],
        "synonyms": [
          "Niemann-Pick disease with cholesterol esterification block",
          "Niemann-Pick disease, subacute juvenile form",
          "lipoid histiocytosis (classical phosphatide)",
          "sphingomyelin/cholesterol lipidosis",
          "type A Niemann-Pick disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell."
      },
      "child_count": 8,
      "reference_id": "MONDO:0001982"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4141,
      "label": "Niemann-Pick disease"
    }
  ]
}