{
  "id": 19530,
  "label": "autoimmune enteropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019787",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 3004,
      "label": "autoimmune disorder of gastrointestinal tract",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060031"
        ],
        "synonyms": [
          "alimentary part of gastrointestinal system autoimmune disease",
          "alimentary part of gastrointestinal system hypersensitivity reaction type II disease",
          "autoimmune disease of alimentary part of gastrointestinal system"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system."
      },
      "child_count": 14,
      "reference_id": "MONDO:0000588"
    },
    {
      "id": 20033,
      "label": "malabsorption syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009554",
          "MEDGEN:44256",
          "MESH:D008286",
          "NCIT:C3214",
          "SCTID:32230006",
          "UMLS:C0024523"
        ],
        "synonyms": [
          "malabsorption",
          "malabsorption syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020598"
    }
  ],
  "children": [
    {
      "id": 11734,
      "label": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2997,
        3018,
        4370,
        5714,
        16071,
        19530
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010580"
    },
    {
      "id": 14625,
      "label": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2997,
        16071,
        16161,
        19530
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111946",
          "GARD:0012314",
          "MEDGEN:481620",
          "OMIM:614162",
          "Orphanet:391487",
          "UMLS:C3279990"
        ],
        "synonyms": [
          "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant",
          "immunodeficiency type 31C",
          "CANDF7",
          "IMD31C",
          "candidiasis familial chronic mucocutaneous, autosomal dominant",
          "candidiasis familial, 7",
          "candidiasis, familial chronic mucocutaneous, autosomal dominant",
          "candidiasis, familial, 7",
          "familial chronic mucocutaneous, autosomal dominant",
          "immunodeficiency 31C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013599"
    },
    {
      "id": 16098,
      "label": "autoimmune enteropathy type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19530
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:103917",
          "icd11.foundation:1137579941"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015174"
    },
    {
      "id": 22751,
      "label": "primary autoimmune enteropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19530
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022147",
          "MEDGEN:1842843",
          "Orphanet:522037",
          "UMLS:C5681441"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033862"
    }
  ],
  "roots": [
    {
      "id": 3004,
      "label": "autoimmune disorder of gastrointestinal tract"
    },
    {
      "id": 20033,
      "label": "malabsorption syndrome"
    }
  ]
}