{
  "id": 9211,
  "label": "Larsen syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007875",
  "properties": {
    "xrefs": [
      "DOID:14764",
      "GARD:0006860",
      "ICD9:759.89",
      "MEDGEN:104500",
      "MESH:C580241",
      "NANDO:2201019",
      "NORD:1349",
      "OMIM:150250",
      "Orphanet:503",
      "SCTID:63387002",
      "UMLS:C0175778",
      "icd11.foundation:607849551"
    ],
    "synonyms": [
      "Larsen syndrome",
      "LRS",
      "autosomal dominant Larsen syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    },
    {
      "id": 29336,
      "label": "FLNB-associated autosomal dominant filamin related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028175"
        ],
        "synonyms": [
          "FLNB-associated autosomal dominant filamin related bone disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal dominant filamin related bone disorder in which the cause of the disease is a variation in FLNB gene."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060173"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 29336,
      "label": "FLNB-associated autosomal dominant filamin related bone disorder"
    }
  ]
}