{
  "id": 18758,
  "label": "non-SCID combined immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018814",
  "properties": {
    "xrefs": [
      "MEDGEN:1842865",
      "Orphanet:480549",
      "UMLS:C5680098"
    ],
    "synonyms": [
      "non-SCID",
      "non-severe combined immunodeficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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": 15167,
      "label": "TCR-alpha-beta-positive T-cell deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111977",
          "GARD:0017646",
          "MEDGEN:815662",
          "OMIM:615387",
          "Orphanet:397959",
          "UMLS:C3809332"
        ],
        "synonyms": [
          "IMD7",
          "TCR-alpha-beta+ T-cell deficiency",
          "T-cell receptor-ALPHA/BETA deficiency",
          "TCR-Alpha/Beta deficiency",
          "immunodeficiency 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014160"
    },
    {
      "id": 18638,
      "label": "NIK deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021864",
          "MEDGEN:1808868",
          "Orphanet:447731",
          "UMLS:C5680065"
        ],
        "synonyms": [
          "MAP3K14 non-severe combined immunodeficiency",
          "non-severe combined immunodeficiency caused by mutation in MAP3K14",
          "primary immunodeficiency with multifaceted aberrant lymphoid immunity"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018642"
    },
    {
      "id": 24842,
      "label": "non-severe combined immunodeficiency due to COPG1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026452"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800136"
    },
    {
      "id": 24845,
      "label": "HELIOS deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026454",
          "Orphanet:697389"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800139"
    },
    {
      "id": 24846,
      "label": "ITPKB deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026455"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800140"
    },
    {
      "id": 24847,
      "label": "MAN2B2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026456"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800141"
    },
    {
      "id": 24851,
      "label": "non-severe combined immunodeficiency due to polymerase delta deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026457"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800145"
    }
  ],
  "roots": [
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    }
  ]
}