{
  "id": 22059,
  "label": "gastrointestinal defect and immunodeficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030831",
  "properties": {
    "xrefs": [
      "GARD:0027932",
      "MEDGEN:1708537",
      "OMIMPS:243150",
      "Orphanet:436252",
      "UMLS:C5234880"
    ],
    "synonyms": [
      "hereditary multiple intestinal atresia"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "A rare hereditary disease characterized by intestinal obstruction and profound combined immune deficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 10692,
      "label": "multiple intestinal atresia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3302,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003013",
          "ICD9:751.8",
          "MEDGEN:65090",
          "MESH:C562441",
          "MedDRA:10028210",
          "Orphanet:2300",
          "SCTID:95472001",
          "UMLS:C0220744"
        ],
        "synonyms": [
          "isolated multiple intestinal atresia",
          "multiple intestinal atresia",
          "intestinal atresia multiple",
          "intestinal atresia, multiple",
          "multiple gastrointestinal atresias"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009465"
    }
  ],
  "children": [
    {
      "id": 21991,
      "label": "gastrointestinal defects and immunodeficiency syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22059,
        29244
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027133",
          "MEDGEN:1811526",
          "OMIM:619708",
          "UMLS:C5676901"
        ],
        "synonyms": [
          "GIDID2",
          "gastrointestinal defects and immunodeficiency syndrome 2",
          "multiple intestinal atresia with or without leukopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030669"
    },
    {
      "id": 24784,
      "label": "gastrointestinal defects and immunodeficiency syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        22059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14671",
          "GARD:0017731",
          "MEDGEN:1872649",
          "OMIM:243150",
          "UMLS:C5968858"
        ],
        "synonyms": [
          "intestinal atresia, multiple",
          "FIPA",
          "MINAT",
          "familial intestinal polyatresia syndrome",
          "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency",
          "CID-MIA/early-onset IBD",
          "combined immunodeficiency-enteropathy spectrum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800030"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 10692,
      "label": "multiple intestinal atresia"
    }
  ]
}