{
  "id": 18735,
  "label": "Jeune syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018770",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 24,
  "parents": [
    {
      "id": 7000,
      "label": "ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060340",
          "EFO:0003900",
          "GARD:0021544",
          "GTR:AN0966173",
          "MEDGEN:908923",
          "Orphanet:363250",
          "UMLS:C4277690"
        ],
        "synonyms": [
          "ciliopathy",
          "ciliopathies"
        ],
        "definition": "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005308"
    },
    {
      "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": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    }
  ],
  "children": [
    {
      "id": 10098,
      "label": "asphyxiating thoracic dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110085",
          "GARD:0015140",
          "MEDGEN:1648057",
          "OMIM:208500",
          "UMLS:C4551856"
        ],
        "synonyms": [
          "ATD1",
          "SRTD1",
          "asphyxiating thoracic dystrophy 1",
          "asphyxiating thoracic dystrophy type 1",
          "short-rib thoracic dysplasia 1 with or without polydactyly",
          "Jeune syndrome",
          "thoracic-pelvic-phalangeal 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": "An asphyxiating thoracic dystrophy associated with variation in the region 15q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008831"
    },
    {
      "id": 10405,
      "label": "Ellis-van Creveld syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18735,
        19138,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12714",
          "GARD:0001301",
          "ICD10CM:Q77.6",
          "ICD9:756.55",
          "MEDGEN:8584",
          "MESH:D004613",
          "MedDRA:10008724",
          "NCIT:C84684",
          "NORD:1083",
          "OMIM:225500",
          "Orphanet:289",
          "SCTID:62501005",
          "UMLS:C0013903"
        ],
        "synonyms": [
          "Chondroectodermal dysplasia",
          "EVC",
          "Ellis Van Creveld Syndrome",
          "Ellis Van Creveld syndrome",
          "Ellis-VAN Creveld syndrome",
          "Ellis-van Creveld syndrome",
          "Mesoectodermal dysplasia",
          "mesodermic 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:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009162"
    },
    {
      "id": 11097,
      "label": "short-rib thoracic dysplasia 6 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735,
        19450
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110092",
          "GARD:0015224",
          "MEDGEN:44252",
          "NCIT:C122654",
          "OMIM:263520",
          "UMLS:C0024507"
        ],
        "synonyms": [
          "Majewski syndrome",
          "SRPS2A",
          "SRTD6",
          "polydactyly with neonatal chondrodystrophy type II",
          "short rib-polydactyly syndrome type II",
          "short-rib thoracic dysplasia 6 with or without polydactyly",
          "Srps, type 2",
          "polydactyly with neonatal chondrodystrophy, type 2",
          "short rib-polydactyly syndrome, type 2",
          "short rib-polydactyly syndrome, type 2A"
        ],
        "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": "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009894"
    },
    {
      "id": 11165,
      "label": "short-rib thoracic dysplasia 9 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        18735,
        19473,
        24234
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110097",
          "GARD:0015227",
          "ICD9:759.89",
          "MEDGEN:341455",
          "OMIM:266920",
          "Orphanet:140969",
          "SCTID:254092004",
          "UMLS:C1849437"
        ],
        "synonyms": [
          "Conorenal syndrome",
          "Mainzer Saldino syndrome",
          "Mainzer-Saldino syndrome",
          "SRTD9",
          "Saldino-Mainzer syndrome",
          "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome",
          "short-rib thoracic dysplasia 9 with or without polydactyly",
          "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia"
        ],
        "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": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009964"
    },
    {
      "id": 11218,
      "label": "Beemer-Langer syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9249",
          "GARD:0004832",
          "ICD9:756.9",
          "MEDGEN:96578",
          "MESH:C537599",
          "OMIM:269860",
          "Orphanet:93268",
          "SCTID:254052001",
          "UMLS:C0432198"
        ],
        "synonyms": [
          "Beemer-Langer syndrome",
          "short rib-polydactyly syndrome type 4",
          "Beemer Langer syndrome",
          "SRPS type 4",
          "SRTD12",
          "Srps 4",
          "short rib polydactyly syndrome Beemer-Langer type",
          "short rib syndrome, Beemer type",
          "short rib-polydactyly syndrome Beemer type",
          "short rib-polydactyly syndrome type IV",
          "short rib-polydactyly syndrome, Beemer-Langer type",
          "short rib-polydactyly syndrome, type 4",
          "short-rib thoracic dysplasia 12"
        ],
        "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": "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010024"
    },
    {
      "id": 13688,
      "label": "asphyxiating thoracic dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110086",
          "GARD:0015511",
          "MEDGEN:370804",
          "MESH:C566982",
          "OMIM:611263",
          "UMLS:C1970005"
        ],
        "synonyms": [
          "ATD2",
          "IFT80 Jeune syndrome",
          "Jeune syndrome caused by mutation in IFT80",
          "SRTD2",
          "asphyxiating thoracic dystrophy 2",
          "asphyxiating thoracic dystrophy type 2",
          "short-rib thoracic dysplasia 2 with or without polydactyly"
        ],
        "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": "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012644"
    },
    {
      "id": 14164,
      "label": "asphyxiating thoracic dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050549",
          "DOID:0110087",
          "GARD:0015613",
          "ICD9:759.89",
          "MEDGEN:19860",
          "MESH:C537602",
          "NCIT:C163755",
          "OMIM:613091",
          "Orphanet:93270",
          "Orphanet:93271",
          "SCTID:254051008",
          "SCTID:27330009",
          "UMLS:C0036069"
        ],
        "synonyms": [
          "ATD3",
          "DYNC2H1-related short rib thoracic dysplasia",
          "SRPS type 1",
          "SRPS type 3",
          "SRPS1",
          "SRPS2B",
          "SRPS3",
          "SRTD3",
          "Saldino-Noonan syndrome",
          "Verma-Naumoff syndrome",
          "asphyxiating thoracic dystrophy 3",
          "asphyxiating thoracic dystrophy type 3",
          "polydactyly with neonatal chondrodystrophy type 1",
          "polydactyly with neonatal chondrodystrophy type III",
          "polydactyly with neonatal chondrodystrophy, type 3",
          "short rib polydactyly syndrome Verma Naumoff type",
          "short rib-polydactyly syndrome Saldino-Noonan type",
          "short rib-polydactyly syndrome type 1",
          "short rib-polydactyly syndrome type 3",
          "short rib-polydactyly syndrome type III",
          "short rib-polydactyly syndrome, type 2B",
          "short-rib thoracic dysplasia 3 with or without polydactyly",
          "type I short rib polydactyly syndrome"
        ],
        "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": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013127"
    },
    {
      "id": 14473,
      "label": "asphyxiating thoracic dystrophy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110088",
          "GARD:0015718",
          "MEDGEN:462535",
          "OMIM:613819",
          "UMLS:C3151185"
        ],
        "synonyms": [
          "ATD4",
          "SRTD4",
          "asphyxiating thoracic dystrophy 4",
          "asphyxiating thoracic dystrophy type 4",
          "short-rib thoracic dysplasia 4 with or without polydactyly"
        ],
        "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": "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013441"
    },
    {
      "id": 14597,
      "label": "short-rib thoracic dysplasia 7 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110090",
          "GARD:0015756",
          "MEDGEN:481422",
          "OMIM:614091",
          "Orphanet:498497",
          "UMLS:C3279792"
        ],
        "synonyms": [
          "SRPS5",
          "SRTD7",
          "short rib-polydactyly syndrome type 5",
          "short rib-polydactyly syndrome, type 5",
          "short-rib thoracic dysplasia 7 with or without polydactyly"
        ],
        "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": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013569"
    },
    {
      "id": 14738,
      "label": "asphyxiating thoracic dystrophy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110089",
          "GARD:0015795",
          "MEDGEN:482228",
          "OMIM:614376",
          "UMLS:C3280598"
        ],
        "synonyms": [
          "ATD5",
          "Jeune syndrome caused by mutation in WDR19",
          "SRTD5",
          "WDR19 Jeune syndrome",
          "asphyxiating thoracic dystrophy 5",
          "asphyxiating thoracic dystrophy type 5",
          "short-rib thoracic dysplasia 5 with or without polydactyly"
        ],
        "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": "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013717"
    },
    {
      "id": 15220,
      "label": "short-rib thoracic dysplasia 8 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110094",
          "GARD:0015975",
          "MEDGEN:816021",
          "OMIM:615503",
          "UMLS:C3809691"
        ],
        "synonyms": [
          "SRPS6",
          "SRTD8",
          "short-rib thoracic dysplasia 8 with or without polydactyly",
          "short rib-polydactyly syndrome, type 6"
        ],
        "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": "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014214"
    },
    {
      "id": 15288,
      "label": "short-rib thoracic dysplasia 10 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110091",
          "GARD:0015993",
          "MEDGEN:816505",
          "OMIM:615630",
          "UMLS:C3810175"
        ],
        "synonyms": [
          "SRTD10",
          "short-rib thoracic dysplasia 10 with or without polydactyly"
        ],
        "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": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014284"
    },
    {
      "id": 15291,
      "label": "short-rib thoracic dysplasia 11 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110095",
          "GARD:0015996",
          "MEDGEN:816530",
          "OMIM:615633",
          "UMLS:C3810200"
        ],
        "synonyms": [
          "SRTD11",
          "short-rib thoracic dysplasia 11 with or without polydactyly"
        ],
        "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": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014287"
    },
    {
      "id": 15575,
      "label": "short-rib thoracic dysplasia 13 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110093",
          "GARD:0016079",
          "MEDGEN:898712",
          "OMIM:616300",
          "UMLS:C4225378"
        ],
        "synonyms": [
          "SRTD13",
          "short-rib thoracic dysplasia 13 with or without polydactyly"
        ],
        "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": "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014577"
    },
    {
      "id": 15683,
      "label": "short-rib thoracic dysplasia 14 with polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18431,
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110096",
          "GARD:0018467",
          "MEDGEN:901479",
          "OMIM:616546",
          "UMLS:C4225286"
        ],
        "synonyms": [
          "SRTD14",
          "short-rib thoracic dysplasia 14 with polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014688"
    },
    {
      "id": 15887,
      "label": "short-rib thoracic dysplasia 15 with polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016185",
          "MEDGEN:934691",
          "OMIM:617088",
          "UMLS:C4310724"
        ],
        "synonyms": [
          "SRTD15",
          "short-rib thoracic dysplasia 15 with polydactyly",
          "short-rib thoracic dysplasia 15 with polydactyly; SRTD15"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014907"
    },
    {
      "id": 15894,
      "label": "short-rib thoracic dysplasia 16 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283,
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016189",
          "MEDGEN:934685",
          "OMIM:617102",
          "UMLS:C4310718"
        ],
        "synonyms": [
          "SRTD16",
          "short-rib thoracic dysplasia 16 with or without polydactyly",
          "short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014915"
    },
    {
      "id": 21900,
      "label": "short-rib thoracic dysplasia 21 without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025550",
          "MEDGEN:1794171",
          "OMIM:619479",
          "UMLS:C5561961"
        ],
        "synonyms": [
          "SRTD21",
          "short-rib thoracic dysplasia 21 without polydactyly"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030356"
    },
    {
      "id": 22662,
      "label": "short-rib thoracic dysplasia 19 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080295",
          "GARD:0025803",
          "MEDGEN:1635837",
          "OMIM:617895",
          "UMLS:C4693524"
        ],
        "synonyms": [
          "short-rib thoracic dysplasia 19 with or without polydactyly",
          "SRTD19"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033485"
    },
    {
      "id": 22939,
      "label": "short-rib thoracic dysplasia 18 with polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080293",
          "GARD:0025818",
          "MEDGEN:1632904",
          "OMIM:617866",
          "UMLS:C4693420"
        ],
        "synonyms": [
          "short-rib thoracic dysplasia 18 with polydactyly",
          "SRTD18"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0036483"
    },
    {
      "id": 23331,
      "label": "short-rib thoracic dysplasia 20 with polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735,
        29327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025897",
          "MEDGEN:1634931",
          "OMIM:617925",
          "UMLS:C4693616"
        ],
        "synonyms": [
          "short-rib thoracic dysplasia 20 with polydactyly",
          "SRTD20"
        ],
        "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": "A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044328"
    },
    {
      "id": 23562,
      "label": "short-rib thoracic dysplasia 17 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025950",
          "MEDGEN:1372794",
          "OMIM:617405",
          "UMLS:C4479416"
        ],
        "synonyms": [
          "SRTD17",
          "short-rib thoracic dysplasia 17 with or without POLYDACTYLY"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054565"
    },
    {
      "id": 24307,
      "label": "Jeune syndrome - GRK2-related",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027278"
        ],
        "synonyms": [
          "GRK2-related Jeune syndrome",
          "asphyxiating thoracic dystrophy - GRK2-related",
          "short rib polydactyly - GRK2 related",
          "short rib thoracic dystrophy - GRK2 related"
        ],
        "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": "A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100583"
    },
    {
      "id": 26251,
      "label": "short-rib thoracic dysplasia 22 without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028115",
          "OMIM:621260"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979242"
    }
  ],
  "roots": [
    {
      "id": 7000,
      "label": "ciliopathy"
    },
    {
      "id": 16302,
      "label": "short rib-polydactyly syndrome"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}