{
  "id": 16628,
  "label": "severe combined immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015974",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 16075,
      "label": "combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111962",
          "DOID:628",
          "GARD:0019806",
          "ICD9:279.2",
          "MEDGEN:751396",
          "NANDO:2100203",
          "NCIT:C27871",
          "Orphanet:101972",
          "UMLS:C2711630",
          "icd11.foundation:1616506198"
        ],
        "synonyms": [
          "CID",
          "congenital combined immunodeficiency",
          "X-linked combined immunodeficiency",
          "combined T and B cell immunodeficiency",
          "combined T cell and B cell immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015131"
    }
  ],
  "children": [
    {
      "id": 2998,
      "label": "recombinase activating gene 1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060011",
          "GARD:0022805"
        ],
        "synonyms": [
          "recombinase activating gene 1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000572"
    },
    {
      "id": 2999,
      "label": "recombinase activating gene 2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060012",
          "GARD:0022806"
        ],
        "synonyms": [
          "recombinase activating gene 2 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000573"
    },
    {
      "id": 7167,
      "label": "janus kinase-3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060008",
          "EFO:0005565",
          "GARD:0024199",
          "Wikipedia:Janus_kinase_3_deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005511"
    },
    {
      "id": 12255,
      "label": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060769",
          "GARD:0004358",
          "MEDGEN:355713",
          "MESH:C536781",
          "OMIM:601705",
          "Orphanet:169095",
          "SCTID:720345008",
          "UMLS:C1866426"
        ],
        "synonyms": [
          "FOXN1 deficiency",
          "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
          "alopecia immunodeficiency",
          "alymphoid cystic thymic dysgenesis",
          "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome",
          "winged helix deficiency",
          "Pignata Guarino syndrome",
          "T-cell immunodeficiency, congenital alopecia and nail dystrophy",
          "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011132"
    },
    {
      "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": 21778,
      "label": "severe combined immunodeficiency due to CARMIL2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16628
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0029134"
    },
    {
      "id": 22167,
      "label": "immunodeficiency 79",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112277",
          "GARD:0009523",
          "MEDGEN:1783683",
          "OMIM:619238",
          "UMLS:C5543220"
        ],
        "synonyms": [
          "CD4 Deficiency",
          "IMD79",
          "immunodeficiency 79"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030981"
    },
    {
      "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"
    },
    {
      "id": 22766,
      "label": "severe combined immunodeficiency due to CD70 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16628,
        17033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017978",
          "MEDGEN:1799982",
          "OMIM:618261",
          "Orphanet:538958",
          "UMLS:C5568559"
        ],
        "synonyms": [
          "lymphoproliferative syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0034054"
    },
    {
      "id": 23289,
      "label": "T-B+ severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021405",
          "MEDGEN:1842847",
          "Orphanet:317416",
          "UMLS:C5679894"
        ],
        "synonyms": [
          "T-B+ SCID",
          "T-cell negative B-cell positive 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 lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."
      },
      "child_count": 10,
      "reference_id": "MONDO:0044200"
    },
    {
      "id": 23290,
      "label": "T+ B+ severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842248",
          "Orphanet:397802",
          "UMLS:C5681156"
        ],
        "synonyms": [
          "T+B+ SCID",
          "T-cell positive B-cell positive SCID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0044201"
    }
  ],
  "roots": [
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    }
  ]
}