{
  "id": 4141,
  "label": "Niemann-Pick disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001982",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16345,
      "label": "non-Langerhans cell histiocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4688
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4330",
          "GARD:0008231",
          "ICD9:288.4",
          "MEDGEN:9265",
          "MESH:D015616",
          "Orphanet:157987",
          "SCTID:127069007",
          "UMLS:C0019624"
        ],
        "synonyms": [
          "non-Langerhans-cell histiocytosis",
          "histiocytosis, non-Langerhans-cell"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0015531"
    },
    {
      "id": 19116,
      "label": "sphingolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19108
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1927",
          "GARD:0007672",
          "MEDGEN:52453",
          "MESH:D013106",
          "NCIT:C117254",
          "Orphanet:79225",
          "SCTID:238028008",
          "UMLS:C0037899",
          "icd11.foundation:1875237176"
        ],
        "definition": "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease."
      },
      "child_count": 11,
      "reference_id": "MONDO:0019255"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 19844,
      "label": "Niemann-Pick disease type E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025159",
          "MEDGEN:82781",
          "Orphanet:99022",
          "SCTID:73399005",
          "UMLS:C0268248"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020384"
    },
    {
      "id": 24190,
      "label": "acid sphingomyelinase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026231",
          "MEDGEN:1800807",
          "UMLS:C5243927"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100464"
    },
    {
      "id": 25105,
      "label": "chronic neurovisceral acid sphingomyelinase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022456",
          "ICD10CM:E75.244",
          "MEDGEN:1842316",
          "Orphanet:618891",
          "UMLS:C5539139"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850058"
    }
  ],
  "roots": [
    {
      "id": 16345,
      "label": "non-Langerhans cell histiocytosis"
    },
    {
      "id": 19116,
      "label": "sphingolipidosis"
    }
  ]
}