SHMARQL

multiple epiphyseal dysplasia

<http://www.wikidata.org/entity/Q1452604>

osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain
multiple epiphyseal dysplasia
rdfs:label
"multiple epiphyseal dysplasia"@en
skos:altLabel
"Fairbank's disease"@en
"MED"@en
"polyepiphyseal dysplasia"@en
schema:description
"osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain"@en
schema:dateModified "2026-10-23T23:46:33+00:00"^^xsd:dateTime
schema:version 2560158384
wikibase:identifiers 25
wikibase:sitelinks 12
wikibase:statements 52
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p:direct-normalized/P6366 <https://makg.org/entity/2778200067>
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wdt:P11143 "Multiple epiphyseal dysplasia"
wdt:P1193 0.00005^^xsd:decimal
wdt:P1417 "science/multiple-epiphyseal-dysplasia"
"topic/polyepiphyseal-dysplasia"
wdt:P14914 "D00251"
wdt:P1550 "166002"
"251"
wdt:P1692 "756.56"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Multipel%20epifyseal%20dysplasi%20skelett.jpg>
wdt:P1995 medical genetics
wdt:P2293 COL2A1
SLC26A2
COMP
COL9A2
COL9A3
MATN3
CANT1
KIF7
COL9A1
wdt:P279 genetic disease
osteochondrodysplasia
developmental defect during embryogenesis
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:12721>
<http://purl.obolibrary.org/obo/DOID_12721>
<http://www.orpha.net/ORDO/Orphanet_166002>
<http://www.orpha.net/ORDO/Orphanet_251>
wdt:P2892 "C0026760"
wdt:P31 type of disease
rare disease
wdt:P373 "Multiple epiphyseal dysplasia"
wdt:P3841 "HP:0002654"
wdt:P4229 "Q77.3"
wdt:P4233 "multiple-epiphyseal-dysplasia"
wdt:P4317 "10756"
wdt:P492 "226900"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0015627"
wdt:P557 "30716"
wdt:P6366 "2778200067"
"2909574276"
wdt:P646 "/m/0h2j2v"
wdt:P665 "H00476"
wdt:P668 "NBK1123"
"NBK1306"
wdt:P673 "1259038"
wdt:P699 "DOID:12721"
wdt:P7329 "LD24.61"
wdt:P7464 "multiple-epiphyseal-dysplasia"
wdt:P780 arthralgia
wdt:P7807 "2009123831"
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