{
  "id": 8551,
  "label": "Townes-Brocks syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007142",
  "properties": {
    "xrefs": [
      "DOID:0050887",
      "GARD:0007784",
      "ICD9:759.89",
      "MEDGEN:75555",
      "MESH:C536974",
      "NCIT:C99085",
      "NORD:1780",
      "OMIMPS:107480",
      "Orphanet:857",
      "SCTID:24750000",
      "UMLS:C0265246",
      "icd11.foundation:66554749"
    ],
    "synonyms": [
      "TBS",
      "Townes syndrome",
      "Townes-Brocks syndrome",
      "imperforate anus with hand, foot and ear anomalies",
      "rear syndrome",
      "renal-ear-anal-radial syndrome",
      "sensorineural deafness with imperforate anus and hypoplastic thumbs",
      "TBS1",
      "Townes-Brocks syndrome 1",
      "Townes-Brocks-branchiootorenal-like syndrome",
      "anus, imperforate, with hand, foot and ear anomalies",
      "anus, imperforate, with hand, foot, and Ear anomalies",
      "deafness, sensorineural, with imperforate anus and hypoplastic thumbs",
      "deafness, sensorineural, with imperforate anus and thumb anomalies",
      "renal-Ear-anal-radial syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart."
  },
  "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"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 23565,
      "label": "Townes-Brocks syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8551,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025951",
          "MEDGEN:1635275",
          "OMIM:107480",
          "UMLS:C4551481"
        ],
        "synonyms": [
          "Townes-Brocks syndrome 1",
          "townes-brocks branchiootorenal-like syndrome",
          "TBS1",
          "Townes-Brocks-branchiootorenal-like syndrome",
          "anus, imperforate, with hand, Foot, and Ear anomalies",
          "deafness, sensorineural, with imperforate anus and thumb anomalies",
          "rear syndrome",
          "renal-ear-anal-radial syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054581"
    },
    {
      "id": 23566,
      "label": "Townes-Brocks syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8551
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025952",
          "MEDGEN:1381939",
          "OMIM:617466",
          "UMLS:C4479534"
        ],
        "synonyms": [
          "Townes-Brocks syndrome 2",
          "TBS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054582"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}