{
  "id": 12950,
  "label": "Niemann-Pick disease type B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011871",
  "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"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842412",
          "Orphanet:264656",
          "SCTID:328661000119108",
          "UMLS:C5679752"
        ],
        "synonyms": [
          "ILD specific to childhood",
          "chILD",
          "chILD syndrome",
          "childhood interstitial lung disease",
          "interstitial lung disease of childhood",
          "paediatric interstitial lung disease",
          "pediatric interstitial lung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A interstitial lung disease that occurs during childhood."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017014"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027936",
          "OMIMPS:619611"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An instance of interstitial lung disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0031199"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease"
    },
    {
      "id": 24190,
      "label": "acid sphingomyelinase deficiency"
    }
  ]
}