{
  "id": 18157,
  "label": "autoimmune lymphoproliferative syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017979",
  "properties": {
    "xrefs": [
      "CSP:1560-5548",
      "DOID:6688",
      "GARD:0008686",
      "ICD10CM:D89.82",
      "MESH:D056735",
      "MedDRA:10069521",
      "NANDO:1200352",
      "NANDO:2200726",
      "NCIT:C37864",
      "Orphanet:3261",
      "icd11.foundation:1072688797"
    ],
    "synonyms": [
      "ALPS",
      "ALPS (autoimmune lymphoproliferative syndrome)",
      "Canale-Smith syndrome",
      "FAS deficiency",
      "autoimmune lymphoproliferative syndrome type 1, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 4539,
      "label": "type IV hypersensitivity disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3018
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2916",
          "MEDGEN:9371",
          "NCIT:C3115",
          "UMLS:C0020522"
        ],
        "synonyms": [
          "DTH",
          "delayed hypersensitivity reaction",
          "delayed-type hypersensitivity",
          "delayed-type hypersensitivity response",
          "disorder of type IV hypersensitivity",
          "type 4 hypersensitivity reaction",
          "type IV hypersensitivity",
          "type IV hypersensitivity reaction",
          "hypersensitivity reaction type IV disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of type IV hypersensitivity."
      },
      "child_count": 3,
      "reference_id": "MONDO:0002459"
    },
    {
      "id": 8586,
      "label": "autoimmune disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:417",
          "EFO:0005809",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:720",
          "MEDGEN:2135",
          "MESH:D001327",
          "NCIT:C2889",
          "OBI:1110054",
          "OMIM:109100",
          "SCTID:85828009",
          "UMLS:C0004364"
        ],
        "synonyms": [
          "autoimmune disease",
          "autoimmune disease or disorder",
          "autoimmune disorder",
          "disease, autoimmune",
          "autoimmune hypersensitivity disease",
          "hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)."
      },
      "child_count": 47,
      "reference_id": "MONDO:0007179"
    },
    {
      "id": 17033,
      "label": "lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060704",
          "GARD:0020633",
          "MEDGEN:6162",
          "MESH:D008232",
          "NCIT:C9308",
          "OMIMPS:308240",
          "Orphanet:238510",
          "SCTID:277466009",
          "UMLS:C0024314"
        ],
        "synonyms": [
          "lymphoproliferative disorder",
          "lymphoproliferative syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016537"
    },
    {
      "id": 20301,
      "label": "neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        21214
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:362147",
          "NCIT:C54705",
          "UMLS:C1882062"
        ],
        "synonyms": [
          "cancer-related syndrome",
          "neoplastic syndrome",
          "tumor syndrome",
          "tumour syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired."
      },
      "child_count": 22,
      "reference_id": "MONDO:0021058"
    }
  ],
  "children": [
    {
      "id": 12280,
      "label": "autoimmune lymphoproliferative syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024776",
          "ICD9:279.41",
          "MEDGEN:231300",
          "OMIM:601859",
          "SCTID:702444009",
          "UMLS:C1328840"
        ],
        "synonyms": [
          "autoimmune lymphoproliferative syndrome type 1",
          "autoimmune lymphoproliferative syndrome, type IA",
          "autoimmune lymphoproliferative syndrome, type IB",
          "autoimmune lymphoproliferative syndrome, type 1A",
          "autoimmune lymphoproliferative syndrome, type 1B",
          "ALPS",
          "Canale-Smith syndrome",
          "autoimmune lymphoproliferative syndrome",
          "autoimmune lymphoproliferative syndrome, type I, autosomal dominant",
          "autoimmune lymphoproliferative syndrome, type I, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011158"
    },
    {
      "id": 12490,
      "label": "autoimmune lymphoproliferative syndrome type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110115",
          "GARD:0015361",
          "MEDGEN:349065",
          "MESH:C565833",
          "NCIT:C39576",
          "OMIM:603909",
          "UMLS:C1858968"
        ],
        "synonyms": [
          "ALPS-CASP10",
          "ALPS2A",
          "CASP10 autoimmune lymphoproliferative syndrome",
          "autoimmune lymphoproliferative syndrome caused by mutation in CASP10",
          "autoimmune lymphoproliferative syndrome, type II",
          "autoimmune lymphoproliferative syndrome-CASP10 variant",
          "type 2 ALPS",
          "type 2 autoimmune lymphoproliferative syndrome",
          "autoimmune lymphoproliferative syndrome, type 2",
          "autoimmune lymphoproliferative syndrome, type 2A",
          "autoimmune lymphoproliferative syndrome, type IIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011383"
    },
    {
      "id": 12886,
      "label": "autoimmune lymphoproliferative syndrome type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110116",
          "GARD:0009796",
          "MEDGEN:339548",
          "NANDO:2200740",
          "OMIM:607271",
          "Orphanet:275517",
          "SCTID:722290008",
          "UMLS:C1846545"
        ],
        "synonyms": [
          "ALPS2B",
          "CASP8 autoimmune lymphoproliferative syndrome",
          "CEDS",
          "autoimmune lymphoproliferative syndrome caused by mutation in CASP8",
          "autoimmune lymphoproliferative syndrome, type IIB",
          "caspase 8 deficiency",
          "caspase 8 deficiency syndrome",
          "Ceds",
          "autoimmune lymphoproliferative syndrome, type 2B",
          "caspase-8 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011804"
    },
    {
      "id": 14785,
      "label": "autoimmune lymphoproliferative syndrome type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110117",
          "GARD:0017262",
          "MEDGEN:382434",
          "OMIM:614470",
          "Orphanet:268114",
          "SCTID:723508002",
          "UMLS:C2674723"
        ],
        "synonyms": [
          "ALPS4",
          "NRAS autoimmune lymphoproliferative syndrome",
          "RALD",
          "RAS-associated autoimmune leukoproliferative disease",
          "RAS-associated autoimmune leukoproliferative disorder",
          "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic",
          "autoimmune lymphoproliferative syndrome caused by mutation in NRAS",
          "autoimmune lymphoproliferative syndrome, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013767"
    },
    {
      "id": 15492,
      "label": "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012316",
          "MEDGEN:863651",
          "NCIT:C126341",
          "OMIM:616100",
          "Orphanet:436159",
          "UMLS:C4015214"
        ],
        "synonyms": [
          "ALPS due to CTLA4 haploinsufficiency",
          "ALPS type 5",
          "ALPS type V",
          "CHAI",
          "CTLA-4 haploinsufficiency with autoimmune infiltration disease",
          "CTLA4 haploinsufficiency",
          "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency",
          "autoimmune lymphoproliferative syndrome type 5",
          "autoimmune lymphoproliferative syndrome type V",
          "chai",
          "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation",
          "ALPS5",
          "CTLA4 haploinsufficiency with autoimmune infiltration",
          "autoimmune lymphoproliferative syndrome, type 5",
          "autoimmune lymphoproliferative syndrome, type V"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014493"
    },
    {
      "id": 18688,
      "label": "Castleman-Kojima disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157,
        22917
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021902",
          "MEDGEN:1672503",
          "Orphanet:457077",
          "UMLS:C4552543",
          "icd11.foundation:1505841618"
        ],
        "synonyms": [
          "TAFRO syndrome",
          "thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly"
      },
      "child_count": 0,
      "reference_id": "MONDO:0018702"
    },
    {
      "id": 29353,
      "label": "FAS-related autoimmune lymphoproliferative syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028187"
        ],
        "synonyms": [
          "FAS-related autoimmune lymphoproliferative syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autoimmune lymphoproliferative syndrome that results from defective lymphocyte homoestasis, and is caused by variants in the FAS gene. It is characterized by non-malignant lymphoproliferation, autoimmune disease, and lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060194"
    },
    {
      "id": 29401,
      "label": "type 3 autoimmune lymphoproliferative syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027040",
          "MEDGEN:274327",
          "NCIT:C39577",
          "UMLS:C1519711"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:8000023"
    },
    {
      "id": 29402,
      "label": "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18157
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110119",
          "GARD:0015987",
          "MEDGEN:816258",
          "OMIM:615559",
          "Orphanet:664711",
          "UMLS:C3809928"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:8000024"
    }
  ],
  "roots": [
    {
      "id": 4539,
      "label": "type IV hypersensitivity disease"
    },
    {
      "id": 8586,
      "label": "autoimmune disease"
    },
    {
      "id": 17033,
      "label": "lymphoproliferative syndrome"
    },
    {
      "id": 20301,
      "label": "neoplastic syndrome"
    }
  ]
}