Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616304 http://purl.bioontology.org/ontology/OMIM/616304
Preferred Name	MYASTHENIC SYNDROME, CONGENITAL, 17
Synonyms	CMS17
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMS17
prefLabel	MYASTHENIC SYNDROME, CONGENITAL, 17
Gene Symbol	CMS17 MEGF7 LRP4 SOST2 CLSS
Scope Statement	Onset at birth [MISCELLANEOUS] Caused by mutation in the low density lipoprotein receptor-related protein 4 gene (LRP4, 604270.0011) [MOLECULAR BASIS] One family has been reported (last curated April 2015) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU051420 http://purl.bioontology.org/ontology/OMIM/MTHU051419 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU041062 http://purl.bioontology.org/ontology/OMIM/MTHU017133 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU051421 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU051417 http://purl.bioontology.org/ontology/OMIM/MTHU021643 http://purl.bioontology.org/ontology/OMIM/MTHU051418 See more See less
tui	T047
Gene Locus	11p12-p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616304
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225377
OMIM Entry Type	3
OMIM MimType Value	pound

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