{
  "id": 15283,
  "label": "immunodeficiency 18",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014278",
  "properties": {
    "xrefs": [
      "DOID:0060017",
      "DOID:0111971",
      "GARD:0018295",
      "MEDGEN:816457",
      "OMIM:615615",
      "UMLS:C3810127"
    ],
    "synonyms": [
      "CD3-Epsilon deficiency",
      "IMD18",
      "immunodeficiency 18",
      "immunodeficiency 18, SCID variant",
      "immunodeficiency 18, Severe combined immunodeficiency variant",
      "immunodeficiency type 18"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16467,
      "label": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017053",
          "MEDGEN:1842819",
          "Orphanet:169160",
          "UMLS:C5679578"
        ],
        "synonyms": [
          "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0015703"
    },
    {
      "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": 16467,
      "label": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"
    },
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency"
    }
  ]
}