{
  "id": 24190,
  "label": "acid sphingomyelinase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100464",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 10966,
      "label": "Niemann-Pick disease type A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        7611,
        24190
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070111",
          "GARD:0007206",
          "ICD10CM:E75.240",
          "MEDGEN:78650",
          "MESH:D052536",
          "NANDO:1200061",
          "NANDO:2201206",
          "NCIT:C126561",
          "OMIM:257200",
          "Orphanet:77292",
          "SCTID:52165006",
          "UMLS:C0268242",
          "icd11.foundation:530611243"
        ],
        "synonyms": [
          "Niemann-PICK disease, type A",
          "Niemann-Pick disease, Intermediate, protracted neurovisceral",
          "sphingomyelin lipidosis",
          "sphingomyelinase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009756"
    },
    {
      "id": 12950,
      "label": "Niemann-Pick disease type B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17416,
        19748,
        22225,
        24190
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070112",
          "GARD:0010729",
          "ICD10CM:E75.241",
          "MEDGEN:78651",
          "MESH:D052537",
          "NANDO:1200062",
          "NANDO:2201207",
          "NCIT:C126866",
          "OMIM:607616",
          "Orphanet:77293",
          "SCTID:39390005",
          "UMLS:C0268243",
          "icd11.foundation:327269975"
        ],
        "synonyms": [
          "type B Niemann-Pick disease",
          "Niemann Pick disease type B",
          "Niemann-PICK disease, type B",
          "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression",
          "Niemann-Pick disease, type E",
          "Niemann-Pick disease, type F"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea"
      },
      "child_count": 0,
      "reference_id": "MONDO:0011871"
    }
  ],
  "roots": [
    {
      "id": 4141,
      "label": "Niemann-Pick disease"
    }
  ]
}