{
  "id": 13223,
  "label": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012160",
  "properties": {
    "xrefs": [
      "DOID:0112300",
      "GARD:0010647",
      "MEDGEN:324684",
      "MESH:C563825",
      "OMIM:608940",
      "Orphanet:85167",
      "UMLS:C1837073"
    ],
    "synonyms": [
      "SMD-CRD",
      "SmD-CRD",
      "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",
      "SMDCRD",
      "spondylometaphyseal dysplasia with cone-rod dystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia"
    }
  ]
}