{
  "id": 12345,
  "label": "severe combined immunodeficiency due to DCLRE1C deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011225",
  "properties": {
    "xrefs": [
      "DOID:0060006",
      "DOID:0090012",
      "GARD:0009987",
      "MEDGEN:355454",
      "OMIM:602450",
      "Orphanet:275",
      "SCTID:715982006",
      "UMLS:C1865370"
    ],
    "synonyms": [
      "DCLRE1C severe combined immunodeficiency (disease)",
      "SCID due to ARTEMIS deficiency",
      "SCID due to DCLRE1C deficiency",
      "SCID due to artemis deficiency",
      "SCID, Athabascan type",
      "SCID, Athabaskan type",
      "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C",
      "severe combined immunodeficiency due to ARTEMIS deficiency",
      "severe combined immunodeficiency due to DCLRE1C deficiency",
      "severe combined immunodeficiency due to artemis deficiency",
      "Athabaskan Severe combined immunodeficiency",
      "RS-SCID",
      "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation",
      "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation",
      "artemis deficiency",
      "severe combined immunodeficiency with sensitivity to ionising radiation",
      "severe combined immunodeficiency with sensitivity to ionizing radiation",
      "severe combined immunodeficiency, Athabascan type",
      "severe combined immunodeficiency, Athabaskan type",
      "severe combined immunodeficiency, Athabaskan-type",
      "severe combined immunodeficiency, partial"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."
  },
  "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": 20416,
      "label": "DNA repair disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0008499",
          "GARD:0025299",
          "MEDGEN:82774",
          "MESH:D049914",
          "NCIT:C7757",
          "UMLS:C0268134"
        ],
        "synonyms": [
          "DNA repair disorder",
          "deficiency of DNA repair",
          "disorder of DNA repair",
          "DNA Repairs, deficient",
          "DNA repair deficiency",
          "DNA repair deficiency disorders",
          "DNA repair, deficient",
          "DNA repair-deficiencies",
          "DNA repair-deficiency",
          "DNA repair-deficiency disorder",
          "Repairs, deficient DNA",
          "chromosome instability syndrome",
          "chromosome instability syndromes",
          "deficient DNA Repairs",
          "deficient DNA repair",
          "disorder, DNA repair-deficiency",
          "disorders, DNA repair-deficiency",
          "repair, deficient DNA",
          "syndrome, chromosome instability",
          "syndromes, chromosome instability"
        ],
        "definition": "A disease that has its basis in the disruption of DNA repair."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021190"
    },
    {
      "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": 20416,
      "label": "DNA repair disease"
    },
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency"
    }
  ]
}