{
  "id": 19471,
  "label": "short rib dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019691",
  "properties": {
    "xrefs": [
      "GARD:0016822",
      "ICD9:756.3",
      "MEDGEN:609403",
      "Orphanet:93426",
      "SCTID:254050009",
      "UMLS:C0432195"
    ],
    "synonyms": [
      "SRP",
      "short-rib dysplasia (with or without polydactyly)",
      "ciliopathies with major skeletal involvement"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "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": 10858,
      "label": "orofaciodigital syndrome type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16229,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060959",
          "GARD:0003701",
          "ICD9:759.89",
          "MEDGEN:10077",
          "OMIM:252100",
          "Orphanet:2751",
          "SCTID:1779005",
          "UMLS:C0026363"
        ],
        "synonyms": [
          "MOHR syndrome",
          "Mohr syndrome",
          "OFD2",
          "oral-facial-digital syndrome type 2",
          "OFD syndrome 2",
          "Ofds 2",
          "oral facial digital syndrome 2",
          "oral facial digital syndrome type 2",
          "oral-Facial-digital syndrome, type 2",
          "orofaciodigital syndrome 2",
          "orofaciodigital syndrome II",
          "orofaciodigital syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009642"
    },
    {
      "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": 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": 12332,
      "label": "axial spondylometaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112299",
          "GARD:0008720",
          "MEDGEN:356065",
          "MESH:C535795",
          "OMIM:602271",
          "Orphanet:168549",
          "UMLS:C1865695",
          "icd11.foundation:834893572"
        ],
        "synonyms": [
          "SMDAX",
          "SmD axial",
          "SmD, axial",
          "axial SmD",
          "spondylometaphyseal dysplasia axial type",
          "spondylometaphyseal dysplasia, axial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011211"
    },
    {
      "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": 24948,
      "label": "short-rib thoracic dysplasia 7/20 with polydactyly, digenic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026519",
          "MEDGEN:1662086",
          "UMLS:C4747658"
        ],
        "synonyms": [
          "SRTD7/20"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800356"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}