{
  "id": 11257,
  "label": "spondyloepimetaphyseal dysplasia, sponastrime type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010068",
  "properties": {
    "xrefs": [
      "DOID:5684",
      "GARD:0004970",
      "ICD9:756.9",
      "MEDGEN:266247",
      "MESH:C535786",
      "NCIT:C129031",
      "OMIM:271510",
      "Orphanet:93357",
      "SCTID:389161008",
      "UMLS:C1300260"
    ],
    "synonyms": [
      "sponastrime dysplasia",
      "spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia",
      "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia",
      "spondyloepimetaphyseal dysplasia, Sponastrime type",
      "spondyloepimetaphyseal dysplasia, sponastrime type",
      "Sponastrime dysplasia",
      "short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation",
      "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation",
      "spondylar and nasal alterations with striated metaphyses",
      "spondyloepimetaphyseal dysplasia Sponastrime type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation."
  },
  "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"
    }
  ]
}