{
  "id": 12850,
  "label": "multiple epiphyseal dysplasia type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011765",
  "properties": {
    "xrefs": [
      "DOID:0070299",
      "GARD:0009794",
      "MEDGEN:335542",
      "MESH:C535505",
      "OMIM:607078",
      "Orphanet:93311",
      "SCTID:715674008",
      "UMLS:C1846843",
      "icd11.foundation:537678813"
    ],
    "synonyms": [
      "BHMED",
      "EDM5",
      "MATN3 multiple epiphyseal dysplasia (disease)",
      "MED5",
      "Polyepiphyseal dysplasia type 5",
      "bilateral hereditary micro-epiphyseal dysplasia",
      "epiphyseal dysplasia, multiple, type 5",
      "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3",
      "Microepiphyseal dysplasia, bilateral hereditary",
      "epiphyseal dysplasia multiple 5",
      "epiphyseal dysplasia, multiple, 5",
      "multiple epiphyseal dysplasia 5",
      "multiple epiphyseal dysplasia, MATN3 related",
      "multiple epiphyseal dysplasia, MATN3-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission."
  },
  "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"
    }
  ]
}