{
  "id": 21991,
  "label": "gastrointestinal defects and immunodeficiency syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030669",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 22059,
      "label": "gastrointestinal defect and immunodeficiency syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        10692
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0030831"
    },
    {
      "id": 29244,
      "label": "PI4KA-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027233"
        ],
        "definition": "Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040012"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 22059,
      "label": "gastrointestinal defect and immunodeficiency syndrome"
    },
    {
      "id": 29244,
      "label": "PI4KA-related disorder"
    }
  ]
}