{
  "id": 29401,
  "label": "type 3 autoimmune lymphoproliferative syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:8000023",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18157,
      "label": "autoimmune lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4539,
        8586,
        17033,
        20301
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 36,
      "reference_id": "MONDO:0017979"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18157,
      "label": "autoimmune lymphoproliferative syndrome"
    }
  ]
}