{
  "id": 23565,
  "label": "Townes-Brocks syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0054581",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8551,
      "label": "Townes-Brocks syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        16089,
        18956
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007142"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        20258,
        20259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026428"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two."
      },
      "child_count": 84,
      "reference_id": "MONDO:0800066"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8551,
      "label": "Townes-Brocks syndrome"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism"
    }
  ]
}