{
  "id": 16161,
  "label": "chronic mucocutaneous candidiasis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015279",
  "properties": {
    "xrefs": [
      "DOID:2058",
      "GARD:0001077",
      "HP:0002728",
      "MEDGEN:2426",
      "MESH:D002178",
      "MedDRA:10009007",
      "NANDO:1200363",
      "NANDO:2200764",
      "NCIT:C34444",
      "OMIMPS:114580",
      "Orphanet:1334",
      "SCTID:234568006",
      "UMLS:C0006845",
      "icd11.foundation:2120780687"
    ],
    "synonyms": [
      "CANDF",
      "CMC",
      "chronic mucocutaneous candidiasis",
      "chronic mucocutaneous candidiasis (disease)",
      "familial CMC",
      "familial candidiasis",
      "familial chronic mucocutaneous candidiasis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 8661,
      "label": "candidiasis, familial, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024538",
          "MEDGEN:414015",
          "MESH:C567779",
          "OMIM:114580",
          "UMLS:C2751429"
        ],
        "synonyms": [
          "CANDF1",
          "candidiasis, familial, 1",
          "candidiasis, familial, 1, autosomal dominant",
          "Cmct",
          "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007257"
    },
    {
      "id": 10757,
      "label": "chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024677",
          "MEDGEN:344504",
          "MESH:C565433",
          "OMIM:247430",
          "UMLS:C1855476"
        ],
        "synonyms": [
          "lymphoblastic transformation, inhibition of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009534"
    },
    {
      "id": 10758,
      "label": "chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024678",
          "MEDGEN:340881",
          "MESH:C565431",
          "OMIM:247450",
          "UMLS:C1855474"
        ],
        "synonyms": [
          "lymphoblastic transformation, intrinsic defect type 1N",
          "lymphoblastic transformation, intrinsic defect IN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009536"
    },
    {
      "id": 10762,
      "label": "chronic mucocutaneous candidiasis due to lymphokine deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015194",
          "MEDGEN:340878",
          "MESH:C565428",
          "OMIM:247650",
          "UMLS:C1855471"
        ],
        "synonyms": [
          "lymphokine deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009540"
    },
    {
      "id": 10861,
      "label": "chronic mucocutaneous candidiasis due to monocyte chemotactic disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015203",
          "MEDGEN:343238",
          "MESH:C565371",
          "OMIM:252250",
          "UMLS:C1854982"
        ],
        "synonyms": [
          "monocyte chemotactic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009645"
    },
    {
      "id": 12957,
      "label": "candidiasis, familial, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015418",
          "MEDGEN:335927",
          "MESH:C564361",
          "OMIM:607644",
          "UMLS:C1843306"
        ],
        "synonyms": [
          "CANDF3",
          "candidiasis, familial, 3",
          "Fcnc",
          "candidiasis, familial chronic nail, with Icam1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011880"
    },
    {
      "id": 14177,
      "label": "candidiasis, familial, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015617",
          "MEDGEN:90958",
          "OMIM:613108",
          "SCTID:235073000",
          "UMLS:C0341024"
        ],
        "synonyms": [
          "CLEC7A familial chronic mucocutaneous candidiasis",
          "candidiasis, familial, 4",
          "candidiasis, familial, 4, autosomal recessive",
          "candidiasis, familial, type 4",
          "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A",
          "CANDF4",
          "candidiasis, familial chronic mucocutaneous"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013140"
    },
    {
      "id": 14530,
      "label": "immunodeficiency 51",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111996",
          "GARD:0015732",
          "MEDGEN:934770",
          "OMIM:613953",
          "UMLS:C4310803"
        ],
        "synonyms": [
          "immunodeficiency 51",
          "CANDF5",
          "IMD51",
          "candidiasis, familial chronic mucocutaneous, autosomal recessive",
          "candidiasis, familial, 5",
          "candidiasis, familial, 5, formerly",
          "candidiasis, familial, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013500"
    },
    {
      "id": 14533,
      "label": "candidiasis, familial, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015093",
          "MEDGEN:462755",
          "OMIM:613956",
          "UMLS:C3151405"
        ],
        "synonyms": [
          "IL17F familial chronic mucocutaneous candidiasis",
          "candidiasis, familial, 6",
          "candidiasis, familial, 6, autosomal dominant",
          "candidiasis, familial, type 6",
          "familial chronic mucocutaneous candidiasis caused by mutation in IL17F",
          "CANDF6",
          "candidiasis, familial chronic mucocutaneous, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013503"
    },
    {
      "id": 14625,
      "label": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2997,
        16071,
        16161,
        19530
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111946",
          "GARD:0012314",
          "MEDGEN:481620",
          "OMIM:614162",
          "Orphanet:391487",
          "UMLS:C3279990"
        ],
        "synonyms": [
          "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant",
          "immunodeficiency type 31C",
          "CANDF7",
          "IMD31C",
          "candidiasis familial chronic mucocutaneous, autosomal dominant",
          "candidiasis familial, 7",
          "candidiasis, familial chronic mucocutaneous, autosomal dominant",
          "candidiasis, familial, 7",
          "familial chronic mucocutaneous, autosomal dominant",
          "immunodeficiency 31C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013599"
    },
    {
      "id": 15236,
      "label": "candidiasis, familial, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015981",
          "MEDGEN:811541",
          "OMIM:615527",
          "UMLS:C3714992"
        ],
        "synonyms": [
          "TRAF3IP2 chronic mucocutaneous candidiasis (disease)",
          "candidiasis, familial, 8",
          "candidiasis, familial, type 8",
          "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2",
          "CANDF8",
          "candidiasis, familial chronic mucocutaneous, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014230"
    },
    {
      "id": 15638,
      "label": "candidiasis, familial, 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016114",
          "MEDGEN:906897",
          "OMIM:616445",
          "UMLS:C4225324"
        ],
        "synonyms": [
          "IL17RC chronic mucocutaneous candidiasis (disease)",
          "candidiasis, familial, 9",
          "candidiasis, familial, type 9",
          "chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC",
          "CANDF9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014642"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}