{
  "id": 18901,
  "label": "Niemann-Pick disease type C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018982",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    }
  ],
  "children": [
    {
      "id": 10967,
      "label": "Niemann-Pick disease, type C1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18901
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009757"
    },
    {
      "id": 12952,
      "label": "Niemann-Pick disease, type C2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070114",
          "GARD:0003992",
          "MEDGEN:335942",
          "MESH:C536119",
          "NCIT:C126865",
          "OMIM:607625",
          "UMLS:C1843366"
        ],
        "synonyms": [
          "NPC2",
          "Niemann-Pick disease, type C2",
          "type C2 Niemann-Pick disease",
          "Niemann-PICK disease, type C2",
          "Niemann-Pick disease type C2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011873"
    },
    {
      "id": 16861,
      "label": "Niemann-Pick disease type C, severe perinatal form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020504",
          "MEDGEN:1842349",
          "Orphanet:216972",
          "UMLS:C5680866"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016306"
    },
    {
      "id": 16862,
      "label": "Niemann-Pick disease type C, severe early infantile neurologic onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020505",
          "MEDGEN:1842400",
          "Orphanet:216975",
          "UMLS:C5680868",
          "icd11.foundation:587642791"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016307"
    },
    {
      "id": 16863,
      "label": "Niemann-Pick disease type C, late infantile neurologic onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020506",
          "MEDGEN:1843353",
          "Orphanet:216978",
          "UMLS:C5680867",
          "icd11.foundation:2075382821"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016308"
    },
    {
      "id": 16864,
      "label": "Niemann-Pick disease type C, juvenile neurologic onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020507",
          "MEDGEN:1842257",
          "Orphanet:216981",
          "UMLS:C5679813",
          "icd11.foundation:2006062681"
        ],
        "synonyms": [
          "Niemann-Pick disease type C, classic form"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016309"
    },
    {
      "id": 16865,
      "label": "Niemann-Pick disease type C, adult neurologic onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020508",
          "MEDGEN:1826101",
          "NANDO:1200065",
          "NANDO:2201209",
          "Orphanet:216986",
          "UMLS:C5680869",
          "icd11.foundation:77127214"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016310"
    }
  ],
  "roots": [
    {
      "id": 4141,
      "label": "Niemann-Pick disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}