{
  "id": 16319,
  "label": "mandibulofacial dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015483",
  "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)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    }
  ],
  "children": [
    {
      "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": 9474,
      "label": "otofaciocervical syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16319
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008163"
    },
    {
      "id": 11694,
      "label": "X-linked mandibulofacial dysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        4370,
        16319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001002",
          "MEDGEN:375543",
          "MESH:C537102",
          "OMIM:301950",
          "Orphanet:1131",
          "SCTID:719813003",
          "UMLS:C1844918",
          "icd11.foundation:135565112"
        ],
        "synonyms": [
          "X-linked branchial arch syndrome",
          "X-linked mandibulofacial dysostosis with limb anomalies",
          "mandibulofacial dysostosis, Toriello type",
          "mandibulofacial dysostosis, X-linked",
          "MFD Toriello type",
          "branchial arch syndrome X-linked",
          "branchial arch syndrome, X-linked",
          "mandibulofacial dysostosis Toriello type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010539"
    },
    {
      "id": 12375,
      "label": "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017547",
          "MEDGEN:355927",
          "MESH:C566520",
          "OMIM:602562",
          "Orphanet:357158",
          "UMLS:C1865181"
        ],
        "synonyms": [
          "macroblepharon-ectropion-hypertelorism-macrostomia syndrome",
          "Verloes-Lesenfants syndrome",
          "macroblepharon, ectropion, hypertelorism, and macrostomia",
          "mandibulofacial dysostosis with macroblepharon and macrostomia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011255"
    },
    {
      "id": 15606,
      "label": "mandibulofacial dysostosis with alopecia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4198,
        4370,
        5714,
        16319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060365",
          "GARD:0017758",
          "MEDGEN:898794",
          "OMIM:616367",
          "Orphanet:443995",
          "UMLS:C4225349"
        ],
        "synonyms": [
          "MFDA",
          "mandibulofacial dysostosis with alopecia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014608"
    },
    {
      "id": 19540,
      "label": "acrodysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16319,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14669",
          "GARD:0005724",
          "ICD9:756.59",
          "MEDGEN:113097",
          "MESH:C538179",
          "NORD:722",
          "OMIMPS:101800",
          "Orphanet:950",
          "SCTID:66758006",
          "UMLS:C0220659",
          "icd11.foundation:477546932"
        ],
        "synonyms": [
          "Arkless-Graham syndrome",
          "Maroteaux-Malamut syndrome",
          "acrodysplasia",
          "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome",
          "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019797"
    }
  ],
  "roots": [
    {
      "id": 18362,
      "label": "dysostosis"
    }
  ]
}