{
  "id": 9770,
  "label": "spondylometaphyseal dysplasia, Schmidt type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008478",
  "properties": {
    "xrefs": [
      "DOID:0112296",
      "GARD:0000504",
      "MEDGEN:356595",
      "MESH:C535794",
      "OMIM:184253",
      "Orphanet:93316",
      "SCTID:719304005",
      "UMLS:C1866688",
      "icd11.foundation:1092012084"
    ],
    "synonyms": [
      "spondylometaphyseal dysplasia Algerian type",
      "spondylometaphyseal dysplasia Schmidt type",
      "spondylometaphyseal dysplasia with severe genu valgum",
      "spondylometaphyseal dysplasia, Algerian type",
      "spondylometaphyseal dysplasia, Schmidt type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112295",
          "GARD:0018685",
          "MEDGEN:1674850",
          "OMIMPS:184255",
          "Orphanet:254",
          "UMLS:C4759767",
          "icd11.foundation:181781948"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life."
      },
      "child_count": 19,
      "reference_id": "MONDO:0016763"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6394,
        18360,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019186",
          "HGNC:2200",
          "MEDGEN:419326",
          "MESH:C535964",
          "NANDO:2201016",
          "Orphanet:93421",
          "UMLS:C2931073"
        ],
        "synonyms": [
          "COL2A1 disease or disorder",
          "collagenopathy type 2 alpha 1",
          "disease or disorder caused by mutation in COL2A1",
          "COL2A1",
          "cartilage collagen",
          "collagen II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
      },
      "child_count": 56,
      "reference_id": "MONDO:0022800"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy"
    }
  ]
}