{
  "id": 15096,
  "label": "Smith-McCort dysplasia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014087",
  "properties": {
    "xrefs": [
      "DOID:0081271",
      "GARD:0015921",
      "MEDGEN:811489",
      "OMIM:615222",
      "UMLS:C3714896"
    ],
    "synonyms": [
      "RAB33B Smith-McCort dysplasia",
      "Smith-McCort dysplasia 2",
      "Smith-McCort dysplasia caused by mutation in RAB33B",
      "Smith-McCort dysplasia type 2",
      "SMITH-McCort dysplasia 2",
      "Smc2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16552,
      "label": "Smith-McCort dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060247",
          "GARD:0010620",
          "MEDGEN:375887",
          "MESH:C564589",
          "OMIMPS:607326",
          "Orphanet:178355",
          "SCTID:715862006",
          "UMLS:C1846431",
          "icd11.foundation:1800275830"
        ],
        "synonyms": [
          "Smith McCort dysplasia",
          "Smith-McCort dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015799"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16552,
      "label": "Smith-McCort dysplasia"
    }
  ]
}