{
  "id": 15852,
  "label": "NEK9-related lethal skeletal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014870",
  "properties": {
    "xrefs": [
      "GARD:0017818",
      "MEDGEN:1799564",
      "OMIM:617022",
      "Orphanet:464366",
      "UMLS:C5568141"
    ],
    "synonyms": [
      "LCCS10",
      "lethal congenital contracture syndrome 10",
      "lethal congenital contracture syndrome type 10",
      "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 17730,
      "label": "lethal congenital contracture syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060558",
          "GARD:0012643",
          "MEDGEN:1863860",
          "OMIMPS:253310",
          "Orphanet:294965",
          "UMLS:C5848326",
          "icd11.foundation:1866017256"
        ],
        "synonyms": [
          "LCCS"
        ],
        "definition": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth."
      },
      "child_count": 22,
      "reference_id": "MONDO:0017436"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 16618,
      "label": "thoracic malformation"
    },
    {
      "id": 17730,
      "label": "lethal congenital contracture syndrome"
    },
    {
      "id": 19471,
      "label": "short rib dysplasia"
    }
  ]
}