{
  "id": 13019,
  "label": "diaphanospondylodysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011946",
  "properties": {
    "xrefs": [
      "GARD:0016674",
      "MEDGEN:374993",
      "MESH:C564305",
      "OMIM:608022",
      "Orphanet:66637",
      "SCTID:721094006",
      "UMLS:C1842691",
      "icd11.foundation:508093071"
    ],
    "synonyms": [
      "diaphanospondylodysostosis",
      "vertebral ossification, defect in, with nephrogenic rests"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019193",
          "MEDGEN:1843363",
          "Orphanet:93434",
          "UMLS:C4736216",
          "icd11.foundation:329165933"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0019694"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia"
    }
  ]
}