{
  "id": 19450,
  "label": "short rib-polydactyly syndrome, Majewski type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019662",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16302,
      "label": "short rib-polydactyly syndrome"
    }
  ]
}