congenital myasthenic syndrome 4C

human disease
rdfs:label "congenital myasthenic syndrome 4C"@en
skos:altLabel "CMS Id"@en
"CMS1D"@en
"CMS4C"@en
"Cms Id, Formerly"@en
"FIM1"@en
"MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY"@en
"MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C"@en
"Myasthenia, Familial Infantile, 1"@en
"Myasthenia, Familial Infantile, 1, Formerly"@en
"Myasthenic Syndrome, Congenital, Type Id"@en
"congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency"@en
"congenital myasthenic syndrome type 4C"@en
"congenital myasthenic syndrome type Id"@en
"familial infantile myasthenia 1"@en
schema:description
"human disease"@en
schema:dateModified "2026-07-05T11:02:47+00:00"^^xsd:dateTime
schema:version 2514101259
wikibase:identifiers 7
wikibase:sitelinks 0
wikibase:statements 17
p:P11430 wd:statement/Q32140167-ccb1b00c-4138-c109-b5a1-d8d63a0023c5
p:P1748 wd:statement/Q32140167-03b50162-4f44-677f-346a-5e94ced384e0
p:P2293 wd:statement/Q32140167-27B77226-315C-4FCA-AC4B-222357EF6A97
p:P279 wd:statement/Q32140167-67EAF714-1FD8-4372-A75F-0D35764706BC
wd:statement/Q32140167-ADD20363-72C4-4296-8ED9-833CB4310845
wd:statement/Q32140167-DC7A2A6F-0329-4F5D-B9DC-81687F1F7A4B
p:P2888 wd:statement/Q32140167-AAD2AB7D-F458-4D43-A653-D635B8017966
wd:statement/Q32140167-BDEDFB8F-980C-4920-9691-C826DC9C9B0C
p:P2892 wd:statement/Q32140167-9CB41854-3CD7-4E8A-BA06-B8ABBA071479
wd:statement/Q32140167-CA181384-BDFF-419A-B7D4-7ACAC6662E9C
wd:statement/Q32140167-DC47D75F-27EB-4C86-80F0-6AE644EFCE11
p:P31 wd:statement/Q32140167-02CCEE75-CC5B-40C1-A152-1CFB040B7486
wd:statement/Q32140167-C2187358-9A60-49DC-A014-7E13D67F5FCD
p:P492 wd:statement/Q32140167-28AF2EF4-6B74-41C4-B0D7-1AC3213A1FC5
p:P5008 wd:statement/Q32140167-9FF70852-244A-44D4-AE48-88EC828BC5BE
p:P5270 wd:statement/Q32140167-88B31916-680D-45FE-BF41-D3D4D9167CDA
p:P699 wd:statement/Q32140167-31C77D58-C450-479E-9957-77367B0CAB39
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0012157>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0110679>
wdt:P11430 "DI-00369"
wdt:P1748 "C174216"
wdt:P2293 CHRNE
wdt:P279 autosomal recessive disease
congenital myasthenic syndrome
wdt:P2888 <http://identifiers.org/doid/DOID:0110679>
<http://purl.obolibrary.org/obo/DOID_0110679>
wdt:P2892 "C1837091"
"C1837092"
"C1837094"
wdt:P31 type of disease
rare disease
wdt:P492 "608931"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0012157"
wdt:P699 "DOID:0110679"
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