{
  "id": 11734,
  "label": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010580",
  "properties": {
    "xrefs": [
      "DOID:0090110",
      "GARD:0001850",
      "ICD9:250.81",
      "MEDGEN:83339",
      "MESH:C580192",
      "NANDO:2200924",
      "NCIT:C131009",
      "OMIM:304790",
      "Orphanet:37042",
      "SCTID:237618001",
      "UMLS:C0342288",
      "icd11.foundation:1060287444"
    ],
    "synonyms": [
      "DMSD",
      "IDDM-secretory diarrhea syndrome",
      "IDDM-secretory diarrhoea syndrome",
      "IPEX",
      "X linked polyendocrinopathy",
      "X-linked autoimmunity-allergic dysregulation syndrome",
      "XLAAD",
      "XPID",
      "autoimmune enteropathy type 1",
      "autoimmunity-immunodeficiency syndrome, X-linked",
      "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea",
      "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea",
      "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked",
      "immune dysfunction and diarrhea syndrome",
      "immune dysfunction and diarrhoea syndrome",
      "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome",
      "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked",
      "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive",
      "IDDM secretory diarrhea syndrome",
      "IDDM secretory diarrhoea syndrome",
      "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked",
      "IPEX syndrome",
      "Iddm-secretory diarrhea syndrome",
      "Iddm-secretory diarrhoea syndrome",
      "Immunodysregulation, polyendocrinopathy and enteropathy X-linked",
      "autoimmunity-immunodeficiency syndrome X-linked",
      "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy",
      "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy",
      "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly",
      "islets of Langerhans, absence of",
      "polyendocrinopathy, immune dysfunction and diarrhea X-linked",
      "polyendocrinopathy, immune dysfunction and diarrhoea X-linked",
      "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2997,
      "label": "autoimmune disorder of endocrine system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060005",
          "ICD9:279.49",
          "MEDGEN:575099",
          "SCTID:237822008",
          "UMLS:C0342552"
        ],
        "synonyms": [
          "endocrine system autoimmune disease",
          "endocrine system hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A hypersensitivity reaction type II disease that involves the endocrine system."
      },
      "child_count": 26,
      "reference_id": "MONDO:0000569"
    },
    {
      "id": 3018,
      "label": "hypersensitivity reaction disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060056",
          "EFO:1002003",
          "MEDGEN:759636",
          "NCIT:C3114",
          "SCTID:473010000",
          "UMLS:C3532523"
        ],
        "synonyms": [
          "allergic reaction",
          "sensitive",
          "sensitivity",
          "hypersensitive",
          "hypersensitivity",
          "hypersensitivity reaction"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system."
      },
      "child_count": 10,
      "reference_id": "MONDO:0000605"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 16071,
      "label": "polyendocrinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019800",
          "MEDGEN:1826133",
          "Orphanet:101956",
          "UMLS:C5681797"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0015126"
    },
    {
      "id": 19530,
      "label": "autoimmune enteropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3004,
        20033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008689",
          "ICD9:279.49",
          "MEDGEN:83322",
          "MESH:C538273",
          "NANDO:2200923",
          "NCIT:C94694",
          "Orphanet:94075",
          "SCTID:235728001",
          "UMLS:C0341305"
        ],
        "synonyms": [
          "immune-mediated protracted diarrhea of infancy",
          "immune-mediated protracted diarrhoea of infancy",
          "severe immune-mediated enteropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019787"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2997,
      "label": "autoimmune disorder of endocrine system"
    },
    {
      "id": 3018,
      "label": "hypersensitivity reaction disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16071,
      "label": "polyendocrinopathy"
    },
    {
      "id": 19530,
      "label": "autoimmune enteropathy"
    }
  ]
}