{
  "id": 21778,
  "label": "severe combined immunodeficiency due to CARMIL2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0029134",
  "properties": {
    "xrefs": [
      "DOID:0111984",
      "GARD:0017981",
      "MEDGEN:1648422",
      "OMIM:618131",
      "Orphanet:542301",
      "UMLS:C4748304"
    ],
    "synonyms": [
      "immunodeficiency 58",
      "IMD58"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16628,
      "label": "severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:627",
          "GARD:0007628",
          "HP:0004430",
          "MEDGEN:88328",
          "MESH:D016511",
          "MedDRA:10069566",
          "NCIT:C3472",
          "NORD:1706",
          "Orphanet:183660",
          "SCTID:31323000",
          "UMLS:C0085110",
          "icd11.foundation:963193284"
        ],
        "synonyms": [
          "SCID",
          "severe combined immunodeficiency",
          "severe combined immunodeficiency (disease)",
          "severe combined immunodeficiency disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells."
      },
      "child_count": 11,
      "reference_id": "MONDO:0015974"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16628,
      "label": "severe combined immunodeficiency"
    }
  ]
}