{
  "id": 13174,
  "label": "spondyloepimetaphyseal dysplasia, matrilin-3 type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012108",
  "properties": {
    "xrefs": [
      "GARD:0010611",
      "MEDGEN:325181",
      "MESH:C563869",
      "OMIM:608728",
      "Orphanet:156728",
      "SCTID:719166003",
      "UMLS:C1837481",
      "icd11.foundation:1983063881"
    ],
    "synonyms": [
      "SEMD, MATN3-related",
      "SEMD, matrilin-3 type",
      "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type",
      "SEMD MATN3-related",
      "spondyloepimetaphyseal dysplasia matrilin-3 related",
      "spondyloepimetaphyseal dysplasia matrilin-3 type",
      "spondyloepimetaphyseal dysplasia, matrilin-3 related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    }
  ]
}