{
  "id": 8481,
  "label": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007064",
  "properties": {
    "xrefs": [
      "CSP:1560-6660",
      "DOID:5810",
      "GARD:0005748",
      "ICD9:277.2",
      "MEDGEN:95935",
      "MESH:C531816",
      "MedDRA:10066367",
      "NANDO:1200323",
      "NANDO:2200696",
      "NCIT:C3962",
      "OMIM:102700",
      "Orphanet:277",
      "SCTID:44940001",
      "UMLS:C0392607"
    ],
    "synonyms": [
      "ADA deficiency",
      "ADA-SCID",
      "SCID due to ADA deficiency",
      "SCID due to ADA deficiency, early-onset",
      "SCID due to adenosine deaminase deficiency",
      "adenosine deaminase deficiency",
      "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism",
      "adenosine deaminase deficient severe combined immunodeficiency",
      "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism",
      "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency",
      "SCID due to ADA deficiency, delayed onset",
      "SCID due to ADA deficiency, late-onset",
      "adenosine deaminase deficiency, partial",
      "partial ADA deficiency",
      "severe combined immunodeficiency due to ADA deficiency",
      "severe combined immunodeficiency due to adenosine deaminase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections."
  },
  "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": 19100,
      "label": "inborn disorder of purine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018965",
          "MedDRA:10061476",
          "Orphanet:79191",
          "icd11.foundation:1958565793"
        ],
        "synonyms": [
          "inborn error of purine nucleobase metabolic process",
          "inborn purine nucleobase metabolic process disorder",
          "rare inborn error of purine nucleobase metabolic process",
          "disorder of purine metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process."
      },
      "child_count": 32,
      "reference_id": "MONDO:0019236"
    },
    {
      "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": 19100,
      "label": "inborn disorder of purine metabolism"
    },
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency"
    }
  ]
}