{
  "id": 9230,
  "label": "platyspondylic dysplasia, Torrance type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007895",
  "properties": {
    "xrefs": [
      "DOID:0111508",
      "GARD:0004382",
      "MEDGEN:331974",
      "MESH:C563627",
      "NANDO:2201347",
      "OMIM:151210",
      "Orphanet:85166",
      "UMLS:C1835437",
      "icd11.foundation:263213426"
    ],
    "synonyms": [
      "PLSD-T",
      "Platyspondylic dysplasia, Torrance-Luton type",
      "Platyspondylic lethal skeletal dysplasia, Torrance type",
      "platyspondylic dysplasia, Torrance type",
      "platyspondylic skeletal dysplasia, Torrance type",
      "PLSDT",
      "Platyspondylic lethal skeletal dysplasia Torrance type",
      "Platyspondylic lethal skeletal dysplasia, Luton type",
      "lethal short-limbed Platyspondylic dwarfism Torrance type",
      "lethal short-limbed Platyspondylic dwarfism, Torrance type",
      "thanatophoric dysplasia Torrance variant",
      "thanatophoric dysplasia, Luton variant",
      "thanatophoric dysplasia, Torrance variant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019193",
          "MEDGEN:1843363",
          "Orphanet:93434",
          "UMLS:C4736216",
          "icd11.foundation:329165933"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0019694"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6394,
        18360,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019186",
          "HGNC:2200",
          "MEDGEN:419326",
          "MESH:C535964",
          "NANDO:2201016",
          "Orphanet:93421",
          "UMLS:C2931073"
        ],
        "synonyms": [
          "COL2A1 disease or disorder",
          "collagenopathy type 2 alpha 1",
          "disease or disorder caused by mutation in COL2A1",
          "COL2A1",
          "cartilage collagen",
          "collagen II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
      },
      "child_count": 56,
      "reference_id": "MONDO:0022800"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy"
    }
  ]
}