{
  "id": 14625,
  "label": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013599",
  "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."
  },
  "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": 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": 16161,
      "label": "chronic mucocutaneous candidiasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2058",
          "GARD:0001077",
          "HP:0002728",
          "MEDGEN:2426",
          "MESH:D002178",
          "MedDRA:10009007",
          "NANDO:1200363",
          "NANDO:2200764",
          "NCIT:C34444",
          "OMIMPS:114580",
          "Orphanet:1334",
          "SCTID:234568006",
          "UMLS:C0006845",
          "icd11.foundation:2120780687"
        ],
        "synonyms": [
          "CANDF",
          "CMC",
          "chronic mucocutaneous candidiasis",
          "chronic mucocutaneous candidiasis (disease)",
          "familial CMC",
          "familial candidiasis",
          "familial chronic mucocutaneous candidiasis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0015279"
    },
    {
      "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": 16071,
      "label": "polyendocrinopathy"
    },
    {
      "id": 16161,
      "label": "chronic mucocutaneous candidiasis"
    },
    {
      "id": 19530,
      "label": "autoimmune enteropathy"
    }
  ]
}