{
  "id": 16552,
  "label": "Smith-McCort dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015799",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [
    {
      "id": 12895,
      "label": "Smith-McCort dysplasia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16552
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081270",
          "GARD:0015411",
          "MEDGEN:854757",
          "OMIM:607326",
          "UMLS:C3888088"
        ],
        "synonyms": [
          "Smith-McCort dysplasia",
          "DYM Smith-McCort dysplasia",
          "Smith-McCort dysplasia 1",
          "Smith-McCort dysplasia caused by mutation in DYM",
          "Smith-McCort dysplasia type 1",
          "SMC",
          "SMITH-McCort dysplasia 1",
          "Smc1"
        ],
        "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 DYM gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011814"
    },
    {
      "id": 15096,
      "label": "Smith-McCort dysplasia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16552
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014087"
    }
  ],
  "roots": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}