{
  "id": 7931,
  "label": "sinus histiocytosis with massive lymphadenopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006412",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    }
  ],
  "children": [
    {
      "id": 12393,
      "label": "H syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6195,
        7931,
        19140,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111278",
          "GARD:0010239",
          "MEDGEN:400532",
          "MESH:C535391",
          "MESH:C538322",
          "NANDO:2200457",
          "OMIM:602782",
          "Orphanet:168569",
          "SCTID:711159002",
          "UMLS:C1864445",
          "icd11.foundation:107155297"
        ],
        "synonyms": [
          "Asrar Facharzt Haque syndrome",
          "H syndrome",
          "Faisalabad histiocytosis",
          "HJCD",
          "Rosai-Dorfman disease, familial",
          "SLC29A3 spectrum disorder",
          "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness",
          "histiocytosis with Joint contractures and sensorineural deafness",
          "histiocytosis-lymphadenopathy plus syndrome",
          "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss",
          "pigmented hypertrichosis with insulin-dependent diabetes mellitus",
          "sinus histiocytosis and massive lymphadenopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011273"
    }
  ],
  "roots": [
    {
      "id": 16345,
      "label": "non-Langerhans cell histiocytosis"
    }
  ]
}