{
  "id": 4538,
  "label": "Treacher-Collins syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002457",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 16319,
      "label": "mandibulofacial dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019980",
          "ICD10CM:Q75.4",
          "MESH:D008342",
          "MedDRA:10051456",
          "Orphanet:155899",
          "icd11.foundation:470731247"
        ],
        "synonyms": [
          "bilateral and symmetric oto-mandibular dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)"
      },
      "child_count": 6,
      "reference_id": "MONDO:0015483"
    }
  ],
  "children": [
    {
      "id": 9274,
      "label": "Treacher Collins syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080789",
          "GARD:0024589",
          "OMIM:154500"
        ],
        "synonyms": [
          "TCOF1 Treacher-Collins syndrome",
          "Treacher Collins syndrome type 1",
          "Treacher-Collins syndrome 1",
          "Treacher-Collins syndrome caused by mutation in TCOF1",
          "TCS1",
          "TREACHER COLLINS syndrome 1",
          "Treacher Collins syndrome",
          "Treacher Collins-Franceschetti syndrome",
          "mandibulofacial dysostosis"
        ],
        "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 TCOF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007944"
    },
    {
      "id": 10779,
      "label": "Treacher Collins syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4538,
        24673
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009558"
    },
    {
      "id": 14418,
      "label": "Treacher Collins syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080790",
          "GARD:0015698",
          "MEDGEN:462333",
          "OMIM:613717",
          "UMLS:C3150983"
        ],
        "synonyms": [
          "POLR1D Treacher-Collins syndrome",
          "Treacher Collins syndrome 2",
          "Treacher Collins syndrome type 2",
          "Treacher-Collins syndrome caused by mutation in POLR1D",
          "TCS2",
          "TREACHER COLLINS syndrome 2"
        ],
        "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 POLR1D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013385"
    },
    {
      "id": 21843,
      "label": "Treacher Collins syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080792",
          "GARD:0016396",
          "MEDGEN:1712280",
          "OMIM:618939",
          "UMLS:C5394546"
        ],
        "synonyms": [
          "TCS4",
          "TREACHER COLLINS SYNDROME 4",
          "Treacher-Collins syndrome 4",
          "treacher collins syndrome 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030067"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16319,
      "label": "mandibulofacial dysostosis"
    }
  ]
}