{
  "id": 11211,
  "label": "sea-blue histiocyte syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010017",
  "properties": {
    "xrefs": [
      "DOID:4423",
      "GARD:0008241",
      "MEDGEN:19908",
      "MESH:D012618",
      "NCIT:C85062",
      "OMIM:269600",
      "Orphanet:158029",
      "SCTID:37821003",
      "UMLS:C0036489"
    ],
    "synonyms": [
      "SEA-blue histiocyte disease",
      "histiocytosis, Sea-blue",
      "inherited Lipemic splenomegaly",
      "sea-blue histiocytosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 16345,
      "label": "non-Langerhans cell histiocytosis"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 19116,
      "label": "sphingolipidosis"
    }
  ]
}