{
  "id": 3003,
  "label": "autoimmune disease of ear, nose and throat",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000587",
  "properties": {
    "xrefs": [
      "DOID:0060030"
    ],
    "synonyms": [
      "autoimmune otorhinolaryngologic disease",
      "autoimmune disease of eyes, ear, nose and throat"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "An autoimmune form of otorhinolaryngologic disease."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 8586,
      "label": "autoimmune disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:417",
          "EFO:0005809",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:720",
          "MEDGEN:2135",
          "MESH:D001327",
          "NCIT:C2889",
          "OBI:1110054",
          "OMIM:109100",
          "SCTID:85828009",
          "UMLS:C0004364"
        ],
        "synonyms": [
          "autoimmune disease",
          "autoimmune disease or disorder",
          "autoimmune disorder",
          "disease, autoimmune",
          "autoimmune hypersensitivity disease",
          "hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)."
      },
      "child_count": 47,
      "reference_id": "MONDO:0007179"
    },
    {
      "id": 21538,
      "label": "otorhinolaryngologic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:478.19",
          "MEDGEN:583054",
          "MESH:D010038",
          "NANDO:1100015",
          "NCIT:C118420",
          "SCTID:232208008",
          "UMLS:C0395797"
        ],
        "synonyms": [
          "ear, nose and throat disorder",
          "ear, nose or throat disorder",
          "ear/nose/throat disease",
          "otolaryngologic disorder",
          "otorhinolaryngologic disease",
          "ENT disease",
          "ENT diseases",
          "disease, ENT",
          "disease, otolaryngologic",
          "disease, otolaryngological",
          "disease, otorhinolaryngologic",
          "disease, otorhinolaryngological",
          "diseases, ENT",
          "diseases, otolaryngologic",
          "diseases, otolaryngological",
          "diseases, otorhinolaryngologic",
          "diseases, otorhinolaryngological",
          "otolaryngologic disease",
          "otolaryngologic diseases",
          "otolaryngological disease",
          "otolaryngological diseases",
          "otorhinolaryngological disease",
          "otorhinolaryngological diseases"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases."
      },
      "child_count": 40,
      "reference_id": "MONDO:0024623"
    }
  ],
  "children": [
    {
      "id": 16296,
      "label": "Cogan syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060216",
          "GARD:0001421",
          "MEDGEN:82871",
          "MESH:D055952",
          "MedDRA:10056667",
          "Orphanet:1467",
          "SCTID:405810005",
          "UMLS:C0271270",
          "icd11.foundation:2098089327"
        ],
        "synonyms": [
          "Cogan syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015453"
    },
    {
      "id": 18665,
      "label": "IgG4-related submandibular gland disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        17611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021884",
          "MEDGEN:1830092",
          "NCIT:C82887",
          "Orphanet:449432",
          "SCTID:448131008",
          "UMLS:C5679995",
          "icd11.foundation:588811750"
        ],
        "synonyms": [
          "IgG4-related sialadenitis",
          "Kuttner tumor",
          "Kuttner tumour",
          "Kuttner's tumor",
          "Kuttner's tumour",
          "Küttner tumor",
          "Küttner tumour",
          "chronic sclerosing sialadenitis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018674"
    },
    {
      "id": 18667,
      "label": "eosinophilic angiocentric fibrosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        17611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021886",
          "MEDGEN:1814179",
          "Orphanet:449566",
          "UMLS:C5578050",
          "icd11.foundation:57609544"
        ],
        "synonyms": [
          "IgG4-related eosinophilic angiocentric fibrosis",
          "eosinophilic angiocentric fibrosis",
          "EAF",
          "Sinonasal eosinophilic angiocentric fibrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018676"
    },
    {
      "id": 19061,
      "label": "IgG4-related dacryoadenitis and sialadenitis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        4032,
        18666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12900",
          "GARD:0007043",
          "MEDGEN:6399",
          "MESH:D008882",
          "MedDRA:10051457",
          "MedDRA:10052317",
          "NANDO:1200929",
          "NCIT:C34819",
          "Orphanet:79078",
          "SCTID:7826003",
          "UMLS:C0026103",
          "icd11.foundation:796087277"
        ],
        "synonyms": [
          "Mikulicz disease",
          "chronic dacryoadenitis and sialadenitis",
          "Mikulicz disease (former)",
          "Mikulicz syndrome (former)",
          "Mikulicz's disease (former)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019191"
    },
    {
      "id": 20878,
      "label": "autoimmune inner ear disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        4547
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:583162",
          "UMLS:C0395947",
          "icd11.foundation:1392879169"
        ],
        "synonyms": [
          "AIED"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible."
      },
      "child_count": 0,
      "reference_id": "MONDO:0022518"
    },
    {
      "id": 22196,
      "label": "autoimmune uveitis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        19773
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0040088",
          "GARD:0025675",
          "MEDGEN:1843501",
          "UMLS:C3888523"
        ],
        "synonyms": [
          "autoimmune uveitis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An autoimmune form of uveitis (disease)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0031012"
    },
    {
      "id": 23772,
      "label": "autoimmune retinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3003,
        4981,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1388012",
          "SCTID:724809006",
          "UMLS:C3203657",
          "icd11.foundation:1969888129"
        ],
        "synonyms": [
          "AIR",
          "autoimmune disease of retina",
          "retina autoimmune disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100014"
    }
  ],
  "roots": [
    {
      "id": 8586,
      "label": "autoimmune disease"
    },
    {
      "id": 21538,
      "label": "otorhinolaryngologic disease"
    }
  ]
}