{
  "id": 14047,
  "label": "combined immunodeficiency due to STIM1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013008",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16459,
      "label": "combined immunodeficiency due to CRAC channel dysfunction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015695"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16459,
      "label": "combined immunodeficiency due to CRAC channel dysfunction"
    }
  ]
}