{
  "id": 12445,
  "label": "spondyloepimetaphyseal dysplasia with multiple dislocations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011335",
  "properties": {
    "xrefs": [
      "DOID:0112199",
      "GARD:0009866",
      "MEDGEN:350960",
      "MESH:C535784",
      "NCIT:C125419",
      "OMIM:603546",
      "Orphanet:93360",
      "SCTID:766820007",
      "UMLS:C1863732"
    ],
    "synonyms": [
      "SEMD-MD",
      "SEMDJL2",
      "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type",
      "spondyloepimetaphyseal dysplasia with joint laxity type 2",
      "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",
      "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type",
      "spondyloepimetaphyseal dysplasia with JOINT laxity type 2",
      "spondyloepimetaphyseal dysplasia with JOINT laxity, type 2",
      "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type",
      "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type",
      "spondyloepimetaphyseal dysplasia with Joint laxity, type 2",
      "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type",
      "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19461,
      "label": "spondyloepimetaphyseal dysplasia with joint laxity"
    }
  ]
}