{
  "id": 24683,
  "label": "combined immunodeficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700289",
  "properties": {
    "xrefs": [
      "GARD:0028009"
    ],
    "synonyms": [
      "CID syndrome",
      "combined immunodeficiency syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A combined immunodeficiency in which other clinical features are present in other organ systems in addition to immunodeficiency."
  },
  "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": 14262,
      "label": "combined immunodeficiency with faciooculoskeletal anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        16088,
        24683
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017139",
          "MEDGEN:442377",
          "MESH:C567641",
          "OMIM:613328",
          "Orphanet:221139",
          "UMLS:C2750068"
        ],
        "synonyms": [
          "Roifman-Chitayat syndrome",
          "Roifman-Chitayat syndrome, digenic",
          "ROIFMAN-Chitayat syndrome",
          "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013226"
    },
    {
      "id": 26598,
      "label": "IKZF2-related combined immunodeficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24683
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028138"
        ],
        "synonyms": [
          "Helios-related immunodeficiency",
          "IKZF2-related combined immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A combined immunodeficiency syndrome in which the cause of the disease is a variation in the IKZF2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1010177"
    }
  ],
  "roots": [
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    }
  ]
}