{
  "id": 26009,
  "label": "MHC class II deficiency 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971013",
  "properties": {
    "xrefs": [
      "GARD:0027106",
      "MEDGEN:347904",
      "OMIM:620815",
      "UMLS:C1859535"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10120,
      "label": "MHC class II deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        22249
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5812",
          "GARD:0000824",
          "MEDGEN:1781237",
          "MESH:C537079",
          "NANDO:1200329",
          "NANDO:2200702",
          "NCIT:C176823",
          "NCIT:C3895",
          "OMIMPS:209920",
          "Orphanet:572",
          "SCTID:71904008",
          "UMLS:C5447452",
          "icd11.foundation:2021339495"
        ],
        "synonyms": [
          "HLA class 2-negative SCID",
          "HLA class 2-negative severe combined immunodeficiency",
          "MHC class II expression deficiency",
          "immunodeficiency by defective expression of HLA class type 2",
          "major histocompatibility complex class II expression deficiency",
          "BARE lymphocyte syndrome",
          "BARE lymphocyte syndrome, type II",
          "BARE lymphocyte syndrome, type II, complementation group B, included",
          "BARE lymphocyte syndrome, type II, complementation group C, included",
          "BARE lymphocyte syndrome, type II, complementation group D, included",
          "BARE lymphocyte syndrome, type II, complementation group E, included",
          "BLS",
          "BLS 2",
          "BLS type II",
          "BLS, type II",
          "BLSII",
          "Bare lymphocyte syndrome",
          "Bare lymphocyte syndrome 2",
          "Bare lymphocyte syndrome type 2",
          "Bare lymphocyte syndrome, type 2",
          "Bare lymphocyte syndrome, type II",
          "Bare lymphocyte syndrome, type II, complementation group A",
          "Bare lymphocyte syndrome, type II, complementation group B",
          "Bare lymphocyte syndrome, type II, complementation group C",
          "Bare lymphocyte syndrome, type II, complementation group D",
          "Bare lymphocyte syndrome, type II, complementation group E",
          "Bls, type 2",
          "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included",
          "SCID, HLA Class 2-negative",
          "SCID, HLA Class II-negative",
          "bare lymphocyte syndrome type II",
          "immunodeficiency by defective expression of HLA class 2",
          "severe combined immunodeficiency, HLA Class II-negative",
          "severe combined immunodeficiency, HLA class ii-negative"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood."
      },
      "child_count": 5,
      "reference_id": "MONDO:0008855"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10120,
      "label": "MHC class II deficiency"
    }
  ]
}