{
  "id": 11671,
  "label": "combined immunodeficiency due to moesin deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010514",
  "properties": {
    "xrefs": [
      "DOID:0112001",
      "GARD:0017939",
      "MEDGEN:1799546",
      "OMIM:300988",
      "Orphanet:504530",
      "UMLS:C5568123"
    ],
    "synonyms": [
      "CID due to Moesin deficiency",
      "IMD50",
      "MSN-related combined immunodeficiency",
      "X-linked Moesin-associated immunodeficiency",
      "immunodeficiency 50",
      "immunodeficiency type 50",
      "immunodeficiency 50, X-linked recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    }
  ]
}