{
  "id": 9781,
  "label": "otospondylomegaepiphyseal dysplasia, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008490",
  "properties": {
    "xrefs": [
      "DOID:0080677",
      "DOID:4258",
      "GARD:0005021",
      "MEDGEN:341234",
      "MESH:C535776",
      "MESH:C537494",
      "NORD:1533",
      "OMIM:184840",
      "OMIM:277610",
      "Orphanet:166100",
      "Orphanet:3450",
      "SCTID:699313003",
      "UMLS:C1848488"
    ],
    "synonyms": [
      "COL11A2 Stickler syndrome",
      "OSMED, Heterozygous",
      "OSMED, heterozygous",
      "OSMEDA",
      "Pierre Robin sequence-fetal chondrodysplasia syndrome",
      "Pierre Robin syndrome with fetal chondrodysplasia",
      "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type",
      "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly",
      "Pierre Robin syndrome with foetal chondrodysplasia",
      "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type",
      "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly",
      "Pierre Robin syndrome-fetal chondrodysplasia syndrome",
      "STICKLER syndrome, type III",
      "STL3",
      "Stickler syndrome caused by mutation in COL11A2",
      "Stickler syndrome, non-ocular type",
      "Stickler syndrome, type 3",
      "Stickler syndrome, type III, formerly",
      "WZS",
      "Weissenbacher-Zweymuller syndrome",
      "heterozygous OSMED",
      "heterozygous otospondylomegaepiphyseal dysplasia",
      "otospondylomegaepiphyseal dysplasia, autosomal dominant",
      "Stickler syndrome nonocular type",
      "Stickler syndrome, Nonocular type",
      "Weissenbacher- Zweymuller syndrome",
      "Weissenbacher-Zweymüller syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities."
  },
  "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"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10233,
      "label": "otospondylomegaepiphyseal dysplasia"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}