{
  "id": 16345,
  "label": "non-Langerhans cell histiocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015531",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 4688,
      "label": "histiocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7447
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3405",
          "MEDGEN:6845",
          "MESH:D015614",
          "NANDO:2100005",
          "NCIT:C3106",
          "ONCOTREE:HDCN",
          "UMLS:C0019618"
        ],
        "synonyms": [
          "histiocytic infiltrate",
          "histiocytic syndrome",
          "histiocytic and dendritic cell neoplasms"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes."
      },
      "child_count": 5,
      "reference_id": "MONDO:0002637"
    }
  ],
  "children": [
    {
      "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": 7931,
      "label": "sinus histiocytosis with massive lymphadenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007588",
          "ICD9:277.89",
          "MEDGEN:9266",
          "MESH:D015618",
          "MedDRA:10063397",
          "NANDO:2200039",
          "NCIT:C36075",
          "NORD:1676",
          "ONCOTREE:RDD",
          "Orphanet:158014",
          "SCTID:34287003",
          "UMLS:C0019625",
          "icd11.foundation:1908538383"
        ],
        "synonyms": [
          "Destombes-RosaC/-Dorfman disease",
          "Destombes-Rosaï-Dorfman disease",
          "RDD",
          "RosaC/-Dorfman-Destombes disease",
          "Rosai-Dorfman Disease",
          "Rosai-Dorfman disease",
          "Rosaï-Dorfman-Destombes disease",
          "SHML",
          "sinus histiocytosis with massive lymphadenopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously."
      },
      "child_count": 1,
      "reference_id": "MONDO:0006412"
    },
    {
      "id": 9078,
      "label": "hereditary progressive mucinous histiocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016989",
          "MEDGEN:326771",
          "MESH:C564186",
          "OMIM:142630",
          "Orphanet:158025",
          "UMLS:C1840586",
          "icd11.foundation:284196883"
        ],
        "synonyms": [
          "histiocytosis, progressive mucinous"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007725"
    },
    {
      "id": 11211,
      "label": "sea-blue histiocyte syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345,
        16607,
        19116
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010017"
    },
    {
      "id": 16209,
      "label": "multicentric reticulohistiocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11824",
          "GARD:0007103",
          "ICD10CM:E78.81",
          "ICD9:272.8",
          "ICD9:713.0",
          "MEDGEN:86315",
          "MedDRA:10070595",
          "NCIT:C27896",
          "Orphanet:139436",
          "SCTID:84241008",
          "UMLS:C0311284",
          "icd11.foundation:977116795"
        ],
        "synonyms": [
          "giant cell histiocytomatosis",
          "lipoid dermatoarthritis",
          "multicentric reticulohistiocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015347"
    },
    {
      "id": 16346,
      "label": "generalized eruptive histiocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020018",
          "MEDGEN:578001",
          "Orphanet:157991",
          "SCTID:110980006",
          "UMLS:C0347404"
        ],
        "synonyms": [
          "generalised eruptive histiocytoma",
          "generalized eruptive histiocytoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015532"
    },
    {
      "id": 16347,
      "label": "benign cephalic histiocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020019",
          "ICD9:216.8",
          "MEDGEN:578000",
          "Orphanet:157997",
          "SCTID:255192005",
          "UMLS:C0347403",
          "icd11.foundation:339468256"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015533"
    },
    {
      "id": 16348,
      "label": "juvenile xanthogranuloma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4424",
          "EFO:1000311",
          "GARD:0020020",
          "MEDGEN:12179",
          "MESH:D014972",
          "NANDO:2200037",
          "NCIT:C3451",
          "Orphanet:158000",
          "SCTID:400204000",
          "UMLS:C0043324",
          "icd11.foundation:98595592"
        ],
        "synonyms": [
          "JXG",
          "juvenile xanthogranuloma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015534"
    },
    {
      "id": 16349,
      "label": "xanthoma disseminatum",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013186",
          "MEDGEN:12178",
          "MedDRA:10052575",
          "Orphanet:158003",
          "SCTID:399970005",
          "UMLS:C0043322",
          "icd11.foundation:1785140754"
        ],
        "synonyms": [
          "Montgomery syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015535"
    },
    {
      "id": 16350,
      "label": "papular xanthoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020021",
          "MEDGEN:1636485",
          "Orphanet:158008",
          "SCTID:765221009",
          "UMLS:C4707373",
          "icd11.foundation:1137782407"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015536"
    },
    {
      "id": 16351,
      "label": "necrobiotic xanthogranuloma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001376",
          "GARD:0010951",
          "ICD9:709.8",
          "MEDGEN:266158",
          "MESH:D058252",
          "Orphanet:158011",
          "SCTID:404164003",
          "UMLS:C1275339",
          "icd11.foundation:2138563851"
        ],
        "synonyms": [
          "NXG"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015537"
    },
    {
      "id": 16352,
      "label": "indeterminate dendritic cell tumor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7797,
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020022",
          "MEDGEN:415159",
          "NCIT:C81767",
          "ONCOTREE:IDCT",
          "Orphanet:158019",
          "SCTID:721313009",
          "UMLS:C2825741"
        ],
        "synonyms": [
          "indeterminate Dendritic cell tumor",
          "indeterminate Dendritic cell tumour",
          "indeterminate cell histiocytosis",
          "indeterminate dendritic cell tumor",
          "IDCT"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015538"
    },
    {
      "id": 16353,
      "label": "progressive nodular histiocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020023",
          "MEDGEN:1647278",
          "Orphanet:158022",
          "SCTID:765141005",
          "UMLS:C4707331",
          "icd11.foundation:1576286064"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015539"
    },
    {
      "id": 18298,
      "label": "Erdheim-Chester disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4329",
          "EFO:1000926",
          "GARD:0006369",
          "ICD9:277.89",
          "MEDGEN:163902",
          "MESH:D031249",
          "MedDRA:10060801",
          "NANDO:2200038",
          "NCIT:C53972",
          "NORD:1102",
          "ONCOTREE:ECD",
          "Orphanet:35687",
          "SCTID:699537002",
          "UMLS:C0878675",
          "icd11.foundation:1395439137",
          "icd11.foundation:146718003"
        ],
        "synonyms": [
          "Erdheim Chester Disease",
          "Erdheim-Chester disease",
          "lipogranulomatosis",
          "polyostotic sclerosing histiocytosis",
          "ECD",
          "Erdheim Chester disease",
          "lipoid granulomatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018153"
    },
    {
      "id": 21532,
      "label": "xanthogranuloma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025437",
          "MEDGEN:1717859",
          "NCIT:C27302",
          "SCTID:189099001",
          "UMLS:C5234857"
        ],
        "synonyms": [
          "xanthogranuloma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0024617"
    }
  ],
  "roots": [
    {
      "id": 4688,
      "label": "histiocytosis"
    }
  ]
}