{
  "id": 13691,
  "label": "Cernunnos-XLF deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012650",
  "properties": {
    "xrefs": [
      "DOID:0061090",
      "GARD:0017045",
      "MEDGEN:369590",
      "MESH:C566970",
      "OMIM:611291",
      "Orphanet:169079",
      "SCTID:720853005",
      "UMLS:C1969799"
    ],
    "synonyms": [
      "Cernunnos XLFD",
      "Cernunnos deficiency",
      "Cernunnos-XLF deficiency",
      "NHEJ1 deficiency",
      "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome",
      "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome",
      "Nhej1 syndrome",
      "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency",
      "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency",
      "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation",
      "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation",
      "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation",
      "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation",
      "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency",
      "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18070,
      "label": "T-B- severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021406",
          "MEDGEN:1842252",
          "Orphanet:317419",
          "UMLS:C5679893"
        ],
        "synonyms": [
          "T-B- SCID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017855"
    },
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027938",
          "OMIMPS:601457"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0031520"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18070,
      "label": "T-B- severe combined immunodeficiency"
    },
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency"
    }
  ]
}