{
  "id": 16302,
  "label": "short rib-polydactyly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015461",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": 16618,
      "label": "thoracic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19706
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842414",
          "NANDO:2201008",
          "Orphanet:182108",
          "UMLS:C5680597"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 15,
      "reference_id": "MONDO:0015929"
    },
    {
      "id": 19471,
      "label": "short rib dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0019691"
    }
  ],
  "children": [
    {
      "id": 10283,
      "label": "cranioectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12769,
        16201,
        16302,
        16626,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050577",
          "GARD:0000359",
          "ICD9:756.9",
          "MEDGEN:1641011",
          "NCIT:C129305",
          "OMIMPS:218330",
          "Orphanet:1515",
          "SCTID:254093009",
          "UMLS:C4551571",
          "icd11.foundation:1588881145"
        ],
        "synonyms": [
          "CED",
          "Sensenbrenner syndrome",
          "cranioectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."
      },
      "child_count": 35,
      "reference_id": "MONDO:0009032"
    },
    {
      "id": 18431,
      "label": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16225,
        16302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017637",
          "MEDGEN:1371401",
          "Orphanet:397715",
          "SCTID:733418003",
          "UMLS:C4518774"
        ],
        "synonyms": [
          "JBTS with JATD",
          "Joubert syndrome with JATD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018342"
    },
    {
      "id": 18735,
      "label": "Jeune syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000,
        16302,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050592",
          "GARD:0003049",
          "MEDGEN:78548",
          "MESH:C537571",
          "MedDRA:10057621",
          "NCIT:C84794",
          "NORD:1074",
          "OMIMPS:208500",
          "Orphanet:474",
          "SCTID:75049004",
          "UMLS:C0265275",
          "icd11.foundation:554018956"
        ],
        "synonyms": [
          "Asphyxiating Thoracic Dystrophy",
          "JATD",
          "Jeune asphyxiating thoracic dystrophy",
          "Jeune syndrome",
          "asphyxiating thoracic dystrophy of the newborn",
          "short-rib thoracic dysplasia",
          "thoracic pelvic phalangeal dystrophy",
          "ATD",
          "Chondroectodermal dysplasia-like syndrome",
          "Jeune's syndrome",
          "asphyxiating thoracic dystrophy",
          "infantile thoracic dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes."
      },
      "child_count": 72,
      "reference_id": "MONDO:0018770"
    },
    {
      "id": 19450,
      "label": "short rib-polydactyly syndrome, Majewski type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004833",
          "ICD9:756.3",
          "Orphanet:93269",
          "SCTID:72922008",
          "icd11.foundation:132740256"
        ],
        "synonyms": [
          "short rib-polydactyly syndrome type 2",
          "SRPS type 2",
          "polydactyly with neonatal chondrodystrophy type 2",
          "short rib-polydactyly syndrome Majewski type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0019662"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16618,
      "label": "thoracic malformation"
    },
    {
      "id": 19471,
      "label": "short rib dysplasia"
    }
  ]
}