{
  "id": 17033,
  "label": "lymphoproliferative syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016537",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "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"
    }
  ],
  "children": [
    {
      "id": 11773,
      "label": "X-linked lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        17033,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060705",
          "GARD:0010915",
          "ICD9:238.79",
          "MEDGEN:107498",
          "MedDRA:10068348",
          "NANDO:1200351",
          "NANDO:2200725",
          "NCIT:C61246",
          "NORD:1865",
          "Orphanet:2442",
          "SCTID:77121009",
          "UMLS:C0549463"
        ],
        "synonyms": [
          "Duncan disease",
          "Purtilo syndrome",
          "X linked Lymphoproliferative Syndrome",
          "X-linked lymphoproliferative syndrome",
          "lymphoproliferative syndrome, X-linked",
          "X-linked lymphoproliferative syndrome type 1",
          "XLP1",
          "lymphoproliferative syndrome, X-linked, type 1",
          "SH2D1A-related lymphoproliferative disease, X-linked",
          "X-linked lymphoproliferative disease",
          "X-linked lymphoproliferative syndrome 1",
          "XLP",
          "lymphoproliferative syndrome X-linked 1",
          "lymphoproliferative syndrome, X-linked, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010627"
    },
    {
      "id": 12623,
      "label": "Dianzani autoimmune lymphoproliferative disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009797",
          "MEDGEN:418980",
          "MESH:C535950",
          "OMIM:605233",
          "Orphanet:275523",
          "SCTID:721093000",
          "UMLS:C2931071"
        ],
        "synonyms": [
          "DALD",
          "Dianzani autoimmune lymphoproliferative disease",
          "Dianzani autoimmune lymphoproliferative syndrome",
          "Dianzani form of autoimmune lymphoproliferative disease",
          "autoimmune lymphoproliferative syndrome without FAS mutations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011524"
    },
    {
      "id": 14119,
      "label": "lymphoproliferative syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17033,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060707",
          "GARD:0017979",
          "MEDGEN:765548",
          "MESH:C567815",
          "NANDO:2200734",
          "NCIT:C126344",
          "OMIM:613011",
          "Orphanet:538963",
          "UMLS:C3552634"
        ],
        "synonyms": [
          "ITK deficiency",
          "ITK lymphoproliferative syndrome",
          "LPFS1",
          "lymphoproliferative syndrome 1",
          "lymphoproliferative syndrome caused by mutation in ITK",
          "lymphoproliferative syndrome type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013081"
    },
    {
      "id": 15063,
      "label": "lymphoproliferative syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060708",
          "GARD:0024968",
          "MEDGEN:767454",
          "OMIM:615122",
          "Orphanet:238505",
          "UMLS:C3554540"
        ],
        "synonyms": [
          "CD27 lymphoproliferative syndrome",
          "LPFS2",
          "lymphoproliferative syndrome 2",
          "lymphoproliferative syndrome caused by mutation in CD27",
          "lymphoproliferative syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014054"
    },
    {
      "id": 16372,
      "label": "Castleman disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111157",
          "GARD:0012656",
          "ICD10CM:D47.Z2",
          "MEDGEN:42211",
          "MESH:D005871",
          "MedDRA:10050251",
          "NCIT:C3056",
          "NORD:898",
          "Orphanet:160",
          "SCTID:207036003",
          "UMLS:C0017531",
          "icd11.foundation:1940989685"
        ],
        "synonyms": [
          "AFLH",
          "Castleman disease",
          "Castleman's disease",
          "Castleman's tumor",
          "Castleman's tumour",
          "GLNH",
          "angiofollicular ganglionic hyperplasia",
          "angiofollicular lymph hyperplasia",
          "angiofollicular lymph node hyperplasia",
          "angiofollicular lymphoid hyperplasia",
          "giant lymph node hyperplasia",
          "ALNH"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015564"
    },
    {
      "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"
    },
    {
      "id": 22766,
      "label": "severe combined immunodeficiency due to CD70 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16628,
        17033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017978",
          "MEDGEN:1799982",
          "OMIM:618261",
          "Orphanet:538958",
          "UMLS:C5568559"
        ],
        "synonyms": [
          "lymphoproliferative syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0034054"
    },
    {
      "id": 23481,
      "label": "atypical lymphoproliferative disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17033,
        23758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025923",
          "MEDGEN:75775",
          "NCIT:C7764",
          "SCTID:20991001",
          "UMLS:C0272217"
        ],
        "synonyms": [
          "atypical lymphoid hyperplasia",
          "atypical lymphoproliferative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044921"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}