{
  "id": 26002,
  "label": "MHC class I deficiency 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971006",
  "properties": {
    "xrefs": [
      "GARD:0027100",
      "OMIM:604571"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12578,
      "label": "MHC class I deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060009",
          "GARD:0009548",
          "MEDGEN:346868",
          "NANDO:1200328",
          "NANDO:2200701",
          "OMIMPS:604571",
          "Orphanet:34592",
          "SCTID:725136003",
          "UMLS:C1858266",
          "icd11.foundation:489749747"
        ],
        "synonyms": [
          "Bare lymphocyte syndrome type 1",
          "immunodeficiency by defective expression of HLA class 1",
          "immunodeficiency by defective expression of HLA class type 1",
          "BARE lymphocyte syndrome, type I",
          "BLS type 1",
          "Bare lymphocyte syndrome, type 1",
          "Bls, type 1",
          "HLA Class 1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011476"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12578,
      "label": "MHC class I deficiency"
    }
  ]
}