{
  "id": 12578,
  "label": "MHC class I deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011476",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16075,
      "label": "combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111962",
          "DOID:628",
          "GARD:0019806",
          "ICD9:279.2",
          "MEDGEN:751396",
          "NANDO:2100203",
          "NCIT:C27871",
          "Orphanet:101972",
          "UMLS:C2711630",
          "icd11.foundation:1616506198"
        ],
        "synonyms": [
          "CID",
          "congenital combined immunodeficiency",
          "X-linked combined immunodeficiency",
          "combined T and B cell immunodeficiency",
          "combined T cell and B cell immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015131"
    }
  ],
  "children": [
    {
      "id": 26002,
      "label": "MHC class I deficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027100",
          "OMIM:604571"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971006"
    },
    {
      "id": 26007,
      "label": "MHC class I deficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027104",
          "MEDGEN:1862135",
          "OMIM:620813",
          "UMLS:C5935617"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971011"
    },
    {
      "id": 26008,
      "label": "MHC class I deficiency 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027105",
          "MEDGEN:1858909",
          "OMIM:620814",
          "UMLS:C5935618"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971012"
    }
  ],
  "roots": [
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    }
  ]
}