{
  "id": 19461,
  "label": "spondyloepimetaphyseal dysplasia with joint laxity",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019675",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080027",
          "GARD:0026258",
          "MEDGEN:609408",
          "SCTID:254062008",
          "UMLS:C0432211"
        ],
        "synonyms": [
          "SEMD",
          "spondylo-epi-(meta)-physeal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
      },
      "child_count": 23,
      "reference_id": "MONDO:0100510"
    }
  ],
  "children": [
    {
      "id": 11263,
      "label": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19461,
        24309
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010075"
    },
    {
      "id": 12445,
      "label": "spondyloepimetaphyseal dysplasia with multiple dislocations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        19461
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011335"
    },
    {
      "id": 22387,
      "label": "spondyloepimetaphyseal dysplasia with joint laxity, type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19461
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112200",
          "GARD:0016348",
          "MEDGEN:1677378",
          "OMIM:618395",
          "Orphanet:642085",
          "UMLS:C5193073"
        ],
        "synonyms": [
          "SEMDJL3",
          "spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type",
          "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032724"
    }
  ],
  "roots": [
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    }
  ]
}