{
  "id": 17117,
  "label": "multiple epiphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016648",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    }
  ],
  "children": [
    {
      "id": 8941,
      "label": "multiple epiphyseal dysplasia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117,
        24316
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007561"
    },
    {
      "id": 8942,
      "label": "multiple epiphyseal dysplasia, Beighton type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111348",
          "GARD:0017012",
          "MEDGEN:377049",
          "MESH:C565046",
          "OMIM:132450",
          "Orphanet:166011",
          "SCTID:719689005",
          "UMLS:C1851536",
          "icd11.foundation:1115252418"
        ],
        "synonyms": [
          "epiphyseal dysplasia, multiple, with myopia and deafness",
          "EDMMD",
          "epiphyseal dysplasia, multiple, with myopia and conductive deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007562"
    },
    {
      "id": 10432,
      "label": "multiple epiphyseal dysplasia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        17117,
        18954,
        24315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070300",
          "GARD:0009793",
          "MEDGEN:376164",
          "MESH:C535504",
          "NORD:1881",
          "OMIM:226900",
          "Orphanet:93307",
          "SCTID:715672007",
          "UMLS:C1847593",
          "icd11.foundation:1927114777"
        ],
        "synonyms": [
          "EDM4",
          "MED4",
          "Polyepiphyseal dysplasia type 4",
          "Recessive Multiple Epiphyseal Dysplasia",
          "SLC26A2 multiple epiphyseal dysplasia (disease)",
          "autosomal recessive multiple epiphyseal dysplasia",
          "epiphyseal dysplasia, multiple, type 4",
          "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2",
          "rMED",
          "epiphyseal dysplasia multiple 4",
          "epiphyseal dysplasia, multiple, 4",
          "multiple epiphyseal dysplasia 4",
          "multiple epiphyseal dysplasia with Bilayered patellae",
          "multiple epiphyseal dysplasia with clubfoot",
          "multiple epiphyseal dysplasia with double-layered patella",
          "multiple epiphyseal dysplasia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009189"
    },
    {
      "id": 12234,
      "label": "multiple epiphyseal dysplasia, Lowry type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011109"
    },
    {
      "id": 12850,
      "label": "multiple epiphyseal dysplasia type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011765"
    },
    {
      "id": 12862,
      "label": "multiple epiphyseal dysplasia, Al-Gazali type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117,
        25049
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017014",
          "MEDGEN:335505",
          "MESH:C564621",
          "OMIM:607131",
          "Orphanet:166024",
          "SCTID:719688002",
          "UMLS:C1846722",
          "icd11.foundation:1359939784"
        ],
        "synonyms": [
          "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome",
          "AGBK",
          "AL-Gazali-BAKALINOVA syndrome",
          "Al-Gazali-Bakalinova syndrome",
          "Mmedf",
          "macrocephaly with multiple epiphyseal dysplasia and distinctive facies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011778"
    },
    {
      "id": 13312,
      "label": "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017015",
          "MEDGEN:324484",
          "MESH:C563736",
          "OMIM:609324",
          "Orphanet:166029",
          "UMLS:C1836315"
        ],
        "synonyms": [
          "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012253"
    },
    {
      "id": 13313,
      "label": "multiple epiphyseal dysplasia, with miniepiphyses",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017016",
          "MEDGEN:332176",
          "MESH:C563735",
          "OMIM:609325",
          "Orphanet:166032",
          "UMLS:C1836307"
        ],
        "synonyms": [
          "epiphyseal dysplasia, multiple, with miniepiphyses"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012254"
    },
    {
      "id": 16414,
      "label": "multiple epiphyseal dysplasia due to collagen 9 anomaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6394,
        17117,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070305",
          "GARD:0015024",
          "MEDGEN:1647610",
          "NANDO:2201016",
          "Orphanet:166002",
          "SCTID:766717008",
          "UMLS:C4707798",
          "icd11.foundation:741183905"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported."
      },
      "child_count": 9,
      "reference_id": "MONDO:0015627"
    },
    {
      "id": 23580,
      "label": "epiphyseal dysplasia, multiple, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070302",
          "GARD:0025960",
          "MEDGEN:1620874",
          "OMIM:617719",
          "Orphanet:647676",
          "UMLS:C4540251"
        ],
        "synonyms": [
          "epiphyseal dysplasia, multiple, 7",
          "multiple epiphyseal dysplasia type 7",
          "EDM7",
          "multiple epiphyseal dysplasia 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054680"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}