{
  "id": 10231,
  "label": "chondrodysplasia punctata, Toriello type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008973",
  "properties": {
    "xrefs": [
      "GARD:0016716",
      "MEDGEN:347071",
      "MESH:C565853",
      "OMIM:215105",
      "Orphanet:79347",
      "SCTID:715631005",
      "UMLS:C1859132",
      "icd11.foundation:1167798993"
    ],
    "synonyms": [
      "Toriello-Higgins-Miller syndrome",
      "chondrodysplasia punctata syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16531,
      "label": "non-rhizomelic chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018679",
          "MEDGEN:1842643",
          "Orphanet:176",
          "UMLS:C5681009"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015775"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16531,
      "label": "non-rhizomelic chondrodysplasia punctata"
    }
  ]
}