{
  "id": 12378,
  "label": "branchiootic syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011258",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18810,
      "label": "branchiootic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16089
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018878"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18810,
      "label": "branchiootic syndrome"
    }
  ]
}