{
  "id": 12234,
  "label": "multiple epiphyseal dysplasia, Lowry type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011109",
  "properties": {
    "xrefs": [
      "GARD:0017013",
      "MEDGEN:321890",
      "MESH:C563291",
      "OMIM:601560",
      "Orphanet:166016",
      "SCTID:768935003",
      "UMLS:C1832112"
    ],
    "synonyms": [
      "multiple epiphyseal dysplasia with Robin phenotype",
      "epiphyseal dysplasia, multiple, with Robin phenotype",
      "multiple epiphyseal dysplasia with ROBIN phenotype"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12721",
          "GARD:0010756",
          "HP:0002654",
          "ICD9:756.56",
          "MEDGEN:6461",
          "MedDRA:10028197",
          "NORD:1468",
          "OMIMPS:132400",
          "Orphanet:251",
          "SCTID:59708000",
          "UMLS:C0026760",
          "icd11.foundation:2009123831"
        ],
        "synonyms": [
          "Dominant Multiple Epiphyseal Dysplasia",
          "EDM",
          "MED",
          "Polyepiphyseal dysplasia",
          "multiple epiphyseal dysplasia",
          "multiple epiphyseal dysplasia (disease)",
          "polyepiphyseal dysplasia",
          "epiphyseal dysplasia, multiple"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6."
      },
      "child_count": 10,
      "reference_id": "MONDO:0016648"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia"
    }
  ]
}