{
  "id": 8941,
  "label": "multiple epiphyseal dysplasia type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007561",
  "properties": {
    "xrefs": [
      "DOID:0070303",
      "GARD:0002180",
      "MEDGEN:325376",
      "OMIM:132400",
      "Orphanet:93308",
      "SCTID:715673002",
      "UMLS:C1838280",
      "icd11.foundation:2130489957"
    ],
    "synonyms": [
      "COMP multiple epiphyseal dysplasia (disease)",
      "EDM1",
      "MED1",
      "Polyepiphyseal dysplasia type 1",
      "epiphyseal dysplasia, multiple, type 1",
      "multiple epiphyseal dysplasia (disease) caused by mutation in COMP",
      "epiphyseal dysplasia multiple 1",
      "epiphyseal dysplasia, Fairbank type",
      "epiphyseal dysplasia, multiple, 1",
      "epiphyseal dysplasia, ribbing type",
      "multiple epiphyseal dysplasia 1",
      "multiple epiphyseal dysplasia COMP-related",
      "multiple epiphyseal dysplasia, Comp-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease 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"
    },
    {
      "id": 24316,
      "label": "COMP-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100593"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia"
    },
    {
      "id": 24316,
      "label": "COMP-related skeletal dysplasia"
    }
  ]
}