{
  "id": 10779,
  "label": "Treacher Collins syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009558",
  "properties": {
    "xrefs": [
      "DOID:0080791",
      "GARD:0009125",
      "MEDGEN:340868",
      "MESH:C535707",
      "OMIM:248390",
      "UMLS:C1855433"
    ],
    "synonyms": [
      "POLR1C Treacher-Collins syndrome",
      "Treacher Collins syndrome 3",
      "Treacher Collins syndrome type 3",
      "Treacher-Collins syndrome caused by mutation in POLR1C",
      "TCS3",
      "TREACHER COLLINS syndrome 3",
      "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4538,
      "label": "Treacher-Collins syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        16089,
        16319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2908",
          "GARD:0009124",
          "MEDGEN:66078",
          "MedDRA:10051456",
          "NCIT:C75018",
          "NORD:1785",
          "OMIMPS:154500",
          "Orphanet:861",
          "SCTID:62767009",
          "UMLS:C0242387",
          "icd11.foundation:969026676"
        ],
        "synonyms": [
          "Franceschetti-Klein syndrome",
          "Treacher Collins Syndrome",
          "Treacher Collins syndrome",
          "Treacher-Collins syndrome",
          "mandibulofacial dysostosis without limb anomalies",
          "MFD1",
          "TCOF",
          "TCS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects."
      },
      "child_count": 16,
      "reference_id": "MONDO:0002457"
    },
    {
      "id": 24673,
      "label": "POLR1C-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Disorder in which the cause of disease is a variation in the POLR1C gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700278"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4538,
      "label": "Treacher-Collins syndrome"
    },
    {
      "id": 24673,
      "label": "POLR1C-related disorder"
    }
  ]
}