{
  "id": 16459,
  "label": "combined immunodeficiency due to CRAC channel dysfunction",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015695",
  "properties": {
    "xrefs": [
      "GARD:0017048",
      "MEDGEN:929240",
      "Orphanet:169090",
      "SCTID:717811007",
      "UMLS:C4303571",
      "icd11.foundation:1641826886"
    ],
    "synonyms": [
      "immune dysfunction due to T-cell inactivation due to calcium entry defect"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 14046,
      "label": "combined immunodeficiency due to ORAI1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16459
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111976",
          "GARD:0010524",
          "MEDGEN:440578",
          "MESH:C557826",
          "OMIM:612782",
          "Orphanet:317428",
          "UMLS:C2748568",
          "icd11.foundation:677672007"
        ],
        "synonyms": [
          "CID due to ORAI1 deficiency",
          "immunodeficiency type 9",
          "IMD9",
          "immune dysfunction with T-cell inactivation due to calcium entry defect 1",
          "immunodeficiency 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013007"
    },
    {
      "id": 14047,
      "label": "combined immunodeficiency due to STIM1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16459
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111970",
          "GARD:0010523",
          "MEDGEN:440575",
          "MESH:C557827",
          "OMIM:612783",
          "Orphanet:317430",
          "UMLS:C2748557",
          "icd11.foundation:8644198"
        ],
        "synonyms": [
          "CID due to STIM1 deficiency",
          "immunodeficiency type 10",
          "IMD10",
          "STIM1 deficiency",
          "immune dysfunction with T-cell inactivation due to calcium entry defect 2",
          "immunodeficiency 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013008"
    }
  ],
  "roots": [
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    }
  ]
}