{
  "id": 16355,
  "label": "hereditary hemophagocytic lymphohistiocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015541",
  "properties": {
    "xrefs": [
      "GARD:0006589",
      "ICD9:238.79",
      "MEDGEN:78797",
      "MedDRA:10070904",
      "OMIMPS:267700",
      "Orphanet:540",
      "SCTID:398250003",
      "UMLS:C0272199"
    ],
    "synonyms": [
      "familial hemophagocytic lymphohistiocytosis",
      "genetic hemophagocytic lymphohistiocytosis",
      "genetic hemophagocytic syndrome",
      "primary hemophagocytic lymphohistiocytosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16354,
      "label": "hemophagocytic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7447
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050120",
          "GARD:0020024",
          "ICD10CM:D76.1",
          "ICD9:288.8",
          "MEDGEN:854411",
          "MedDRA:10058125",
          "NANDO:2200032",
          "NCIT:C34792",
          "NCIT:C35439",
          "NORD:1938",
          "Orphanet:158032",
          "SCTID:234437005",
          "UMLS:C3887558"
        ],
        "synonyms": [
          "HLH",
          "Hemophagocytic Lymphohistiocytosis",
          "hemophagocytic lymphohistiocytosis",
          "hemophagocytic syndrome",
          "FHL",
          "familial erythrophagocytic lymphohistiocytosis",
          "familial hemophagocytic lymphohistiocytosis",
          "familial histiocytic reticulosis",
          "haemophagocytic syndrome",
          "hemophagocytic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015540"
    }
  ],
  "children": [
    {
      "id": 10221,
      "label": "Chediak-Higashi syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16076,
        16355,
        17626,
        17972,
        19748,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2935",
          "GARD:0006035",
          "ICD10CM:E70.330",
          "MEDGEN:3347",
          "MESH:D002609",
          "MedDRA:10008415",
          "NANDO:1200350",
          "NANDO:1200639",
          "NANDO:2200724",
          "NCIT:C2941",
          "NORD:921",
          "OMIM:214500",
          "Orphanet:167",
          "SCTID:111396008",
          "UMLS:C0007965"
        ],
        "synonyms": [
          "CHS",
          "ChC)diak-Higashi disease",
          "ChC)diak-Higashi-Steinbrink syndrome",
          "Chediak Higashi Syndrome",
          "Chediak Higashi syndrome",
          "Chediak-Higashi syndrome",
          "Chédiak-Higashi disease",
          "Chédiak-Higashi syndrome",
          "Chédiak-Higashi-Steinbrink syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008963"
    },
    {
      "id": 11175,
      "label": "familial hemophagocytic lymphohistiocytosis type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110921",
          "GARD:0006590",
          "MEDGEN:1642840",
          "MedDRA:10070904",
          "NCIT:C61276",
          "OMIM:267700",
          "UMLS:C4551514"
        ],
        "synonyms": [
          "familial hemophagocytic lymphohistiocytosis",
          "FHL1",
          "HLH1",
          "HPLH1",
          "familial HLH",
          "familial hemophagocytic lymphohistiocytosis type 1",
          "Erythrophagocytic lymphohistiocytosis, familial",
          "Hlh1",
          "Hplh1",
          "familial hemophagocytic lymphohistiocytosis 1",
          "hemophagocytic lymphohistiocytosis, familial",
          "hemophagocytic lymphohistiocytosis, familial, 1",
          "hemophagocytic reticulosis, familial",
          "reticulosis, familial histiocytic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009974"
    },
    {
      "id": 12446,
      "label": "familial hemophagocytic lymphohistiocytosis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110924",
          "GARD:0009929",
          "MEDGEN:350245",
          "MESH:C537252",
          "NANDO:2200730",
          "OMIM:603552",
          "UMLS:C1863728"
        ],
        "synonyms": [
          "FHL4",
          "HLH4",
          "HPLH4",
          "STX11 genetic hemophagocytic lymphohistiocytosis",
          "familial hemophagocytic lymphohistiocytosis 4",
          "familial hemophagocytic lymphohistiocytosis type 4",
          "genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11",
          "hemophagocytic lymphohistiocytosis, familial, type 4",
          "Hlh4",
          "Hplh4",
          "hemophagocytic lymphohistiocytosis, familial, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011336"
    },
    {
      "id": 12447,
      "label": "familial hemophagocytic lymphohistiocytosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110922",
          "GARD:0009922",
          "MEDGEN:400366",
          "MESH:C537250",
          "NANDO:2200728",
          "OMIM:603553",
          "UMLS:C1863727"
        ],
        "synonyms": [
          "FHL2",
          "HLH2",
          "HPLH2",
          "PRF1 genetic hemophagocytic lymphohistiocytosis",
          "familial hemophagocytic lymphohistiocytosis type 2",
          "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1",
          "hemophagocytic lymphohistiocytosis, familial, type 2",
          "Hlh2",
          "Hplh2",
          "hemophagocytic lymphohistiocytosis, familial, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011337"
    },
    {
      "id": 12951,
      "label": "Griscelli syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16076,
        16355,
        18403
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060833",
          "GARD:0004483",
          "MEDGEN:357030",
          "MESH:C537302",
          "NANDO:2200732",
          "NCIT:C111814",
          "OMIM:607624",
          "Orphanet:79477",
          "UMLS:C1868679",
          "icd11.foundation:1836541365"
        ],
        "synonyms": [
          "GS2",
          "Griscelli syndrome type 2",
          "Griscelli syndrome with hemophagocytic syndrome",
          "Griscelli-PruniC)ras syndrome type 2",
          "Griscelli-Pruniéras syndrome type 2",
          "Griscelli-Pruni��ras syndrome type 2",
          "PAID syndrome",
          "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome",
          "partial albinism and immunodeficiency syndrome",
          "Griscelli disease type 2",
          "Griscelli syndrome, type 2",
          "Paid syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011872"
    },
    {
      "id": 13068,
      "label": "Hermansky-Pudlak syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16076,
        16355,
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060540",
          "GARD:0015026",
          "MEDGEN:374912",
          "MESH:C537709",
          "NANDO:2200733",
          "NCIT:C150368",
          "OMIM:608233",
          "Orphanet:183678",
          "Orphanet:664500",
          "UMLS:C1842362"
        ],
        "synonyms": [
          "AP3B1 Hermansky-Pudlak syndrome",
          "HPS-2",
          "HPS2",
          "Hermansky-Pudlak syndrome 2",
          "Hermansky-Pudlak syndrome caused by mutation in AP3B1",
          "Hermansky-Pudlak syndrome type 2",
          "Hermansky Pudlak syndrome 2",
          "Hermansky-Pudlak syndrome with neutropenia",
          "Platelet defects and oculocutaneous albinism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011997"
    },
    {
      "id": 13210,
      "label": "familial hemophagocytic lymphohistiocytosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110923",
          "GARD:0009928",
          "MEDGEN:332383",
          "MESH:C537251",
          "NANDO:2200729",
          "OMIM:608898",
          "UMLS:C1837174"
        ],
        "synonyms": [
          "FHL3",
          "HLH3",
          "HPLH3",
          "UNC13D genetic hemophagocytic lymphohistiocytosis",
          "familial hemophagocytic lymphohistiocytosis type 3",
          "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D",
          "hemophagocytic lymphohistiocytosis, familial, type 3",
          "Hlh3",
          "Hplh3",
          "hemophagocytic lymphohistiocytosis, familial, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012146"
    },
    {
      "id": 14172,
      "label": "familial hemophagocytic lymphohistiocytosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110925",
          "GARD:0015614",
          "MEDGEN:416514",
          "MESH:C567752",
          "NANDO:2200731",
          "OMIM:613101",
          "UMLS:C2751293"
        ],
        "synonyms": [
          "FHL5",
          "STXBP2 genetic hemophagocytic lymphohistiocytosis",
          "familial hemophagocytic lymphohistiocytosis type 5",
          "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2",
          "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",
          "hemophagocytic lymphohistiocytosis, familial, type 5",
          "hemophagocytic lymphohistiocytosis, familial, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013135"
    },
    {
      "id": 14632,
      "label": "Hermansky-Pudlak syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355,
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060547",
          "GARD:0018338",
          "MEDGEN:481656",
          "OMIM:614171",
          "Orphanet:280663",
          "UMLS:C3280026"
        ],
        "synonyms": [
          "BLOC1S6 Hermansky-Pudlak syndrome",
          "HPS9",
          "Hermansky-Pudlak syndrome 9",
          "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6",
          "Hermansky-Pudlak syndrome type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013606"
    },
    {
      "id": 22683,
      "label": "hemophagocytic lymphohistiocytosis, familial, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016400",
          "MEDGEN:1736944",
          "OMIM:618998",
          "UMLS:C5436563"
        ],
        "synonyms": [
          "immune dysregulation and systemic hyperinflammation syndrome",
          "FHL6",
          "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033557"
    },
    {
      "id": 24853,
      "label": "hemophagocytic lymphohistiocytosis due to RhoG deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026459"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800147"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16354,
      "label": "hemophagocytic syndrome"
    }
  ]
}