{
  "id": 8641,
  "label": "branchiootorenal syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007236",
  "properties": {
    "xrefs": [
      "DOID:0111423",
      "GARD:0024535",
      "MEDGEN:1632634",
      "OMIM:113650",
      "UMLS:C4551702"
    ],
    "synonyms": [
      "branchiootorenal syndrome 1",
      "branchiootorenal syndrome 1, with or without cataracts",
      "branchiootorenal syndrome type 1",
      "BOR1",
      "Melnick-Fraser syndrome",
      "branchiootorenal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8448,
      "label": "branchio-oto-renal syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        16089
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14702",
          "GARD:0010147",
          "ICD9:759.89",
          "MEDGEN:82693",
          "MESH:D019280",
          "MedDRA:10071135",
          "NANDO:1200675",
          "NCIT:C98983",
          "OMIMPS:113650",
          "Orphanet:107",
          "SCTID:290006",
          "UMLS:C0265234",
          "Wikipedia:Branchio-oto-renal_syndrome",
          "icd11.foundation:504227287"
        ],
        "synonyms": [
          "Branchio-Oto-renal syndrome",
          "Melnick-Fraser syndrome",
          "branchio-oto-renal syndrome",
          "branchiootorenal syndrome",
          "Branchio oto renal syndrome",
          "bor syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007029"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8448,
      "label": "branchio-oto-renal syndrome"
    }
  ]
}