{
  "id": 22387,
  "label": "spondyloepimetaphyseal dysplasia with joint laxity, type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032724",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19461,
      "label": "spondyloepimetaphyseal dysplasia with joint laxity"
    }
  ]
}