{
  "id": 11097,
  "label": "short-rib thoracic dysplasia 6 with or without polydactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009894",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18735,
      "label": "Jeune syndrome"
    },
    {
      "id": 19450,
      "label": "short rib-polydactyly syndrome, Majewski type"
    }
  ]
}