spheroid body myopathy

Human disease
rdfs:label
"spheroid body myopathy"@en
skos:altLabel
"Autosomal dominant spheroid body myopathy"@en
"MYOPATHY, SPHEROID BODY"@en
schema:description
"Human disease"@en
schema:dateModified "2026-10-23T23:52:38+00:00"^^xsd:dateTime
schema:version 2560159876
wikibase:identifiers 11
wikibase:sitelinks 1
wikibase:statements 21
p:P14914 wd:statement/Q2309604-B7F4C33F-D6DF-407A-861A-1D0D06306BAB
p:P1550 wd:statement/Q2309604-2e59d4f3-4e64-b1ab-3866-e45fc2807ca8
p:P2293 wd:statement/Q2309604-53E3BD71-CE9E-4EC0-8E66-E87053C43008
p:P2671 wd:statement/Q2309604-573D0057-DA96-4C7E-8FC4-251EBFE41D09
p:P279 wd:statement/Q2309604-03679534-2C2C-4175-B7B8-C519B8E17897
wd:statement/Q2309604-98A1B2C8-53AC-474C-BA81-384C5C700B05
p:P2841 wd:statement/Q2309604-03E5CAEF-47D2-45AD-86A1-3BA3F5F06F29
p:P2888 wd:statement/Q2309604-043A1CE2-A23D-4277-9C81-472C77DFCA72
wd:statement/Q2309604-084246F7-9FA8-49D5-903A-D4AA818B8C65
wd:statement/Q2309604-316ABCD3-1F01-4B8C-9CAC-16169585472B
p:P2892 wd:statement/Q2309604-0053A0F7-FD3C-463D-A68A-3E45BDA67482
p:P31 wd:statement/Q2309604-0FB06D6C-A1C9-4B71-B23A-FF73C3C36097
wd:statement/Q2309604-1D12199C-6BA8-4122-8977-609EF25B100F
p:P4229 wd:statement/Q2309604-B234D991-2D4C-4DD5-803F-AEEE2F860812
p:P4317 wd:statement/Q2309604-BFB220DA-CE76-4919-834B-FC243B08A944
p:P486 wd:statement/Q2309604-EF9BB910-BE36-4436-B3D1-0CD1AF0BAE1A
p:P492 wd:statement/Q2309604-481FF9FE-DFD9-4BC6-A062-196A1A759C3E
p:P5008 wd:statement/Q2309604-E49E74BD-2B21-4642-A5F0-256E87DD8B26
p:P5270 wd:statement/Q2309604-A5C8DFBC-8C86-410F-9FCA-EEBDFDDE8E68
p:P665 wd:statement/Q2309604-46F96389-436C-481F-9908-B18397AA7A39
p:P699 wd:statement/Q2309604-FC4A1C8E-97CD-4F00-A6E5-173726C79B4C
p:direct-normalized/P2671 <http://g.co/kg/g/120t9w92>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C000598645>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008448>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01291>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080091>
wdt:P14914 "D268129"
wdt:P1550 "268129"
wdt:P2293 MYOT
wdt:P2671 "/g/120t9w92"
wdt:P279 myofibrillar myopathy
qualitative or quantitative defects of myotilin
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:0080091>
<http://purl.obolibrary.org/obo/DOID_0080091>
<http://www.orpha.net/ORDO/Orphanet_268129>
wdt:P2892 "C1866785"
wdt:P31 type of disease
rare disease
wdt:P4229 "G71.8"
wdt:P4317 "8711"
wdt:P486 "C000598645"
wdt:P492 "182920"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0008448"
wdt:P665 "H01291"
wdt:P699 "DOID:0080091"
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