{
  "id": 9474,
  "label": "otofaciocervical syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008163",
  "properties": {
    "xrefs": [
      "GARD:0004169",
      "MEDGEN:322257",
      "MESH:C537074",
      "MESH:C563481",
      "OMIMPS:166780",
      "Orphanet:2792",
      "UMLS:C1833691"
    ],
    "synonyms": [
      "Fara Chlupackova syndrome",
      "Fara-Chlupackova syndrome",
      "OFC syndrome",
      "familial oto-facio-cervical dysmorphia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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": 15259,
      "label": "otofaciocervical syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016503",
          "MEDGEN:1782278",
          "OMIM:615560",
          "UMLS:C5442121"
        ],
        "synonyms": [
          "PAX1 otofaciocervical syndrome",
          "otofaciocervical syndrome 2",
          "otofaciocervical syndrome caused by mutation in PAX1",
          "otofaciocervical syndrome type 2",
          "OFC2",
          "OTFCS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014254"
    },
    {
      "id": 21478,
      "label": "otofaciocervical syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016502",
          "MEDGEN:811516",
          "OMIM:166780",
          "UMLS:C3714941"
        ],
        "synonyms": [
          "OFC",
          "OTFCS",
          "otofaciocervical syndrome",
          "EYA1 otofaciocervical syndrome",
          "otofaciocervical syndrome 1",
          "otofaciocervical syndrome caused by mutation in EYA1",
          "OFC1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024532"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16319,
      "label": "mandibulofacial dysostosis"
    }
  ]
}