{
  "id": 16618,
  "label": "thoracic malformation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015929",
  "properties": {
    "xrefs": [
      "MEDGEN:1842414",
      "NANDO:2201008",
      "Orphanet:182108",
      "UMLS:C5680597"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 19706,
      "label": "respiratory or thoracic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6815
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842800",
          "Orphanet:97957",
          "UMLS:C5681559"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0020001"
    }
  ],
  "children": [
    {
      "id": 8477,
      "label": "Acropectorovertebral dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000512",
          "MEDGEN:400262",
          "MESH:C566319",
          "OMIM:102510",
          "Orphanet:957",
          "SCTID:720457000",
          "UMLS:C1863307",
          "icd11.foundation:1013313909"
        ],
        "synonyms": [
          "Acropectorovertebral dysplasia",
          "F syndrome",
          "ACRPV",
          "Acropectorovertebral dysplasia F form"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007058"
    },
    {
      "id": 8780,
      "label": "congenitally short costocoracoid ligament",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001551",
          "MEDGEN:342257",
          "MESH:C536448",
          "OMIM:122580",
          "Orphanet:2391",
          "SCTID:725101002",
          "UMLS:C1852523"
        ],
        "synonyms": [
          "congenital shortness of the costocoracoid ligament",
          "costocoracoid ligament congenitally short",
          "costocoracoid ligament, congenitally short",
          "fixation of the scapula to the first rib by a congenitally short costocoracoid ligament"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007388"
    },
    {
      "id": 9773,
      "label": "Sprengel deformity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007693",
          "HP:0000912",
          "MEDGEN:56291",
          "MESH:C535802",
          "MedDRA:10010455",
          "NORD:1736",
          "OMIM:184400",
          "Orphanet:3181",
          "SCTID:79120002",
          "UMLS:C0152438",
          "icd11.foundation:2144522441"
        ],
        "synonyms": [
          "Sprengel deformity",
          "Sprengel deformity (disease)",
          "high scapula",
          "Sprengel's deformity",
          "Sprengel's shoulder",
          "congenital elevation of the scapula",
          "congenital upward displacement of the scapula"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008482"
    },
    {
      "id": 9838,
      "label": "thoracolaryngopelvic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005184",
          "MEDGEN:349978",
          "MESH:C536517",
          "OMIM:187760",
          "OMIM:187770",
          "Orphanet:3317",
          "SCTID:723556008",
          "UMLS:C1861197",
          "icd11.foundation:337990406"
        ],
        "synonyms": [
          "Barnes syndrome",
          "thoracolaryngopelvic dysplasia",
          "thoracopelvic dysostosis",
          "TLPD",
          "autosomal dominant thoracolaryngopelvic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008551"
    },
    {
      "id": 10091,
      "label": "fetal akinesia deformation sequence",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        16094,
        16618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111375",
          "GARD:0009634",
          "ICD9:754.89",
          "MESH:C536647",
          "NCIT:C129071",
          "OMIMPS:208150",
          "SCTID:401138005"
        ],
        "synonyms": [
          "FADS",
          "fetal akinesia deformation sequence",
          "arthrogryposis multiplex congenita with pulmonary hypoplasia",
          "fetal akinesia sequence",
          "foetal akinesia sequence"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes."
      },
      "child_count": 20,
      "reference_id": "MONDO:0008824"
    },
    {
      "id": 10884,
      "label": "lethal congenital contracture syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        16618,
        17730
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060559",
          "GARD:0003227",
          "MEDGEN:344338",
          "MESH:C537194",
          "OMIM:253310",
          "Orphanet:1486",
          "SCTID:715418007",
          "UMLS:C1854664"
        ],
        "synonyms": [
          "GLE1 lethal congenital contracture syndrome",
          "Herva disease",
          "LCCS1",
          "lethal congenital contracture syndrome 1",
          "lethal congenital contracture syndrome caused by mutation in GLE1",
          "lethal congenital contracture syndrome type 1",
          "multiple contracture syndrome, Finnish type",
          "Lccs",
          "lethal autosomal recessive syndrome of multiple congenital contractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009670"
    },
    {
      "id": 11004,
      "label": "orofaciodigital syndrome IV",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16229,
        16618,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060374",
          "GARD:0000816",
          "MEDGEN:98358",
          "MESH:C537133",
          "OMIM:258860",
          "Orphanet:2753",
          "SCTID:239031000",
          "UMLS:C0406727"
        ],
        "synonyms": [
          "Baraitser-Burn syndrome",
          "Mohr-Majewski syndrome",
          "OFD4",
          "oral-facial-digital syndrome type 4",
          "orofaciodigital syndrome IV",
          "orofaciodigital syndrome type 4",
          "orofaciodigital syndrome type IV",
          "OFD syndrome 4",
          "Ofd syndrome with tibial defects",
          "Ofd syndrome, Baraitser-Burn type",
          "Ofds 4",
          "oral facial digital syndrome 4",
          "oral facial digital syndrome type 4",
          "oral-Facial-digital syndrome, type 4",
          "orofaciodigital syndrome 4",
          "orofaciodigital syndrome with tibial dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009794"
    },
    {
      "id": 11300,
      "label": "thoracic dysplasia-hydrocephalus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005180",
          "MEDGEN:338562",
          "MESH:C564774",
          "OMIM:273730",
          "Orphanet:1861",
          "UMLS:C1848864"
        ],
        "synonyms": [
          "thoracic dysplasia-hydrocephalus syndrome",
          "thoracic dysplasia hydrocephalus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010115"
    },
    {
      "id": 11301,
      "label": "thoracomelic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010612",
          "MEDGEN:336441",
          "MESH:C564773",
          "OMIM:273740",
          "Orphanet:1803",
          "UMLS:C1848863",
          "icd11.foundation:1284518024"
        ],
        "synonyms": [
          "Rivera-Perez-Salas syndrome",
          "thoracolimb dysplasia, Rivera type",
          "thoracomelic dysplasia",
          "'thoraco-limb' dysplasia",
          "thoraco-limb dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010116"
    },
    {
      "id": 12136,
      "label": "Matthew-Wood syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16089,
        16618,
        16704
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050819",
          "DOID:0111807",
          "GARD:0000713",
          "MEDGEN:318679",
          "MESH:C537768",
          "OMIM:601186",
          "Orphanet:2470",
          "SCTID:722458000",
          "UMLS:C1832661"
        ],
        "synonyms": [
          "MCOPS9",
          "Matthew-Wood syndrome",
          "anophthalmia-pulmonary hypoplasia syndrome",
          "microphthalmia syndromic type 9",
          "microphthalmia, syndromic type 9",
          "syndromic microphthalmia type 9",
          "Matthew Wood syndrome",
          "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm",
          "anophthalmia/microphthalmia and pulmonary hypoplasia",
          "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations",
          "microphthalmia syndromic 9",
          "microphthalmia, isolated, with coloboma 8",
          "microphthalmia, syndromic 9",
          "pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect",
          "pulmonary agenesis microphthalmi and diaphragmatic defect",
          "pulmonary agenesis, microphthalmia, and diaphragmatic defect",
          "spear syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011010"
    },
    {
      "id": 15852,
      "label": "NEK9-related lethal skeletal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618,
        17730,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017818",
          "MEDGEN:1799564",
          "OMIM:617022",
          "Orphanet:464366",
          "UMLS:C5568141"
        ],
        "synonyms": [
          "LCCS10",
          "lethal congenital contracture syndrome 10",
          "lethal congenital contracture syndrome type 10",
          "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014870"
    },
    {
      "id": 16302,
      "label": "short rib-polydactyly syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16618,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018726",
          "ICD9:756.3",
          "MEDGEN:11412",
          "MESH:D012779",
          "NCIT:C85065",
          "Orphanet:1505",
          "SCTID:205484001",
          "UMLS:C0036996",
          "icd11.foundation:960900212"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015461"
    },
    {
      "id": 16663,
      "label": "shoulder and thorax deformity-congenital heart disease syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16618,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004859",
          "Orphanet:1940"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016024"
    },
    {
      "id": 16699,
      "label": "sternal cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005012",
          "ICD9:756.3",
          "MEDGEN:419096",
          "MESH:C537489",
          "Orphanet:2017",
          "SCTID:54008006",
          "UMLS:C2931507",
          "icd11.foundation:1308914573"
        ],
        "synonyms": [
          "cleft sternum",
          "sternum bifidum",
          "congenital sternal cleft"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016066"
    },
    {
      "id": 19011,
      "label": "ossification anomalies-psychomotor developmental delay syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018921",
          "MEDGEN:928495",
          "Orphanet:73230",
          "UMLS:C4302826"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019131"
    }
  ],
  "roots": [
    {
      "id": 19706,
      "label": "respiratory or thoracic malformation"
    }
  ]
}