{
  "id": 8448,
  "label": "branchio-oto-renal syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007029",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 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": 8641,
      "label": "branchiootorenal syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8448
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007236"
    },
    {
      "id": 13622,
      "label": "branchiootorenal syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8448
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111424",
          "GARD:0015503",
          "MEDGEN:410081",
          "OMIM:610896",
          "UMLS:C1970479"
        ],
        "synonyms": [
          "SIX5 branchio-oto-renal syndrome",
          "branchio-oto-renal syndrome caused by mutation in SIX5",
          "branchiootorenal syndrome 2",
          "branchiootorenal syndrome type 2",
          "BOR2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012575"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}