{
  "id": 23295,
  "label": "otospondylomegaepiphyseal dysplasia, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044206",
  "properties": {
    "xrefs": [
      "GARD:0025881",
      "OMIM:215150"
    ],
    "synonyms": [
      "otospondylomegaepiphyseal dysplasia, autosomal recessive",
      "Nance-Insley syndrome",
      "Nance-Sweeney chondrodysplasia",
      "OSMED",
      "OSMEDB",
      "Weissenbacher-Zweymuller syndrome",
      "Weissenbacher-Zweymuller syndrome, formerly",
      "chondrodystrophy with sensorineural deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10233,
      "label": "otospondylomegaepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080026",
          "GARD:0004130",
          "ICD9:759.89",
          "MEDGEN:1617409",
          "OMIMPS:184840",
          "Orphanet:1427",
          "SCTID:254060000",
          "UMLS:C4520892",
          "icd11.foundation:1885284987"
        ],
        "synonyms": [
          "OSMED",
          "otospondylmegaepiphyseal dysplasia",
          "otospondylomegaepiphyseal dysplasia",
          "Insley-Astley syndrome",
          "Nance Sweeney chondrodysplasia",
          "OSMED syndrome",
          "oto-spondylo-mega-epiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008975"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10233,
      "label": "otospondylomegaepiphyseal dysplasia"
    }
  ]
}