{
  "id": 11263,
  "label": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010075",
  "properties": {
    "xrefs": [
      "DOID:0112198",
      "GARD:0024706",
      "MEDGEN:865814",
      "OMIM:271640",
      "Orphanet:642099",
      "UMLS:C4017377"
    ],
    "synonyms": [
      "SEMDJL",
      "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity",
      "SEMDJL1",
      "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6",
      "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",
      "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
      "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19461,
      "label": "spondyloepimetaphyseal dysplasia with joint laxity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112197",
          "GARD:0004982",
          "ICD9:719.80",
          "ICD9:756.9",
          "MEDGEN:98148",
          "MESH:C562968",
          "OMIMPS:271640",
          "Orphanet:93359",
          "SCTID:254100000",
          "UMLS:C0432243"
        ],
        "synonyms": [
          "SEMD-JL",
          "SEMDJL",
          "spondyloepimetaphyseal dysplasia with joint laxity",
          "SEMDJL1",
          "spondyloepimetaphyseal dysplasia with joint laxity type 1",
          "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",
          "spondyloepimetaphyseal dysplasia joint laxity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019675"
    },
    {
      "id": 24309,
      "label": "B3GALT6-congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027280"
        ],
        "synonyms": [
          "B3GALT6-CDG",
          "B3GALT6-congenital disorder of glycosylation",
          "B3GALT6-related congenital disorder of glycosylation"
        ],
        "definition": "Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100586"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19461,
      "label": "spondyloepimetaphyseal dysplasia with joint laxity"
    },
    {
      "id": 24309,
      "label": "B3GALT6-congenital disorder of glycosylation"
    }
  ]
}