SHMARQL

congenital myopathy with excess of thin filaments

<http://www.wikidata.org/entity/Q56014414>

human disease
rdfs:label
"congenital myopathy with excess of thin filaments"@en
skos:altLabel "Actin myopathy"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-24T00:51:55+00:00"^^xsd:dateTime
schema:version 2560169562
wikibase:identifiers 7
wikibase:sitelinks 0
wikibase:statements 15
p:P14914 wd:statement/Q56014414-509D3A88-5C82-4903-BECE-DB2F94B75FBA
p:P1550 wd:statement/Q56014414-EF82A4E2-92F2-4A1B-A5EA-644F7DA0E4DF
p:P2293 wd:statement/Q56014414-94E90BE5-1CCD-4223-9497-911619C8F394
p:P279 wd:statement/Q56014414-BE826236-5B81-4286-89AE-F660E384F0BD
p:P2888 wd:statement/Q56014414-D584ADC9-38EF-434F-A4A6-00136650EEF4
p:P2892 wd:statement/Q56014414-A15E62B5-A10A-41D8-BBE2-981595BE16C7
wd:statement/Q56014414-FD940517-3289-454B-B97E-E2F6AF9AF0A7
p:P31 wd:statement/Q56014414-0BE3EF33-8B1F-4B34-98DC-E45EBA0EFEF1
p:P4229 wd:statement/Q56014414-CD9B3323-6BC6-4971-8131-C31B43EFB042
p:P486 wd:statement/Q56014414-25F79A2E-4467-4CA3-8771-EE069E2ECA3E
p:P5270 wd:statement/Q56014414-D7A30A11-E274-4ACF-8737-7E1CE051994B
p:P6532 wd:statement/Q56014414-7BBD84C0-FA13-45D2-94A8-BB1EA0AD3A0A
wd:statement/Q56014414-9B1F0FC4-BA0C-4403-92C4-B14ECD0CB271
wd:statement/Q56014414-E59898DA-E6BE-408C-9FFA-0519B5516B87
wd:statement/Q56014414-EE6DF7A0-6876-41F7-B4BB-27D38F341785
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C579880>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0020342>
wdt:P14914 "D98904"
wdt:P1550 "98904"
wdt:P2293 ACTA1
wdt:P279 congenital myopathy
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_98904>
wdt:P2892 "C1834336"
"C3711389"
wdt:P31 type of disease
wdt:P4229 "G71.2"
wdt:P486 "C579880"
wdt:P5270 "MONDO_0020342"
wdt:P6532 muscle rigidity
dilated cardiomyopathy
abnormal reflex
hypertonia
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata