{
  "id": 10233,
  "label": "otospondylomegaepiphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008975",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [
    {
      "id": 9781,
      "label": "otospondylomegaepiphyseal dysplasia, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10233,
        16089
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008490"
    },
    {
      "id": 23295,
      "label": "otospondylomegaepiphyseal dysplasia, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10233
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044206"
    }
  ],
  "roots": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}