{
  "id": 18810,
  "label": "branchiootic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018878",
  "properties": {
    "xrefs": [
      "DOID:0060232",
      "GARD:0010148",
      "MEDGEN:1636666",
      "MESH:C537104",
      "NANDO:1200675",
      "OMIMPS:602588",
      "Orphanet:52429",
      "SCTID:764810000",
      "UMLS:C4273131"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [
    {
      "id": 8753,
      "label": "branchiootic syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18810
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015053",
          "MEDGEN:377737",
          "MESH:C565171",
          "OMIM:120502",
          "UMLS:C1852718"
        ],
        "synonyms": [
          "branchiootic syndrome 2",
          "branchiootic syndrome type 2",
          "bo syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007360"
    },
    {
      "id": 12378,
      "label": "branchiootic syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18810
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061209",
          "GARD:0024783",
          "MEDGEN:351307",
          "OMIM:602588",
          "UMLS:C1865143"
        ],
        "synonyms": [
          "EYA1 branchiootic syndrome",
          "branchiootic syndrome 1",
          "branchiootic syndrome caused by mutation in EYA1",
          "branchiootic syndrome type 1",
          "BOS1",
          "anterior segment anomalies with or without cataract",
          "bo syndrome 1",
          "branchiootic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011258"
    },
    {
      "id": 13094,
      "label": "branchiootic syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18810
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061210",
          "GARD:0015430",
          "MEDGEN:333995",
          "MESH:C564248",
          "OMIM:608389",
          "UMLS:C1842124"
        ],
        "synonyms": [
          "SIX1 branchiootic syndrome",
          "branchiootic syndrome 3",
          "branchiootic syndrome caused by mutation in SIX1",
          "branchiootic syndrome type 3",
          "BOS3",
          "bo syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012025"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}