Online Mendelian Inheritance in Man - CARDIAC VALVULAR DYSPLASIA, X-LINKED - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/314400 http://purl.bioontology.org/ontology/OMIM/314400
Preferred Name	CARDIAC VALVULAR DYSPLASIA, X-LINKED
Synonyms	MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED VALVULAR HEART DISEASE, CONGENITAL EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY XMVD CVDPX EDS5, FORMERLY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED VALVULAR HEART DISEASE, CONGENITAL EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY XMVD CVDPX EDS5, FORMERLY See more See less
prefLabel	CARDIAC VALVULAR DYSPLASIA, X-LINKED
Gene Symbol	CSBS FLNA OPD1 NHBP CVD1 FLN1 FGS2 FMD OPD2 MNS See more See less
Scope Statement	Phenotypic variability [MISCELLANEOUS] Male patients more severely affected than female patients [MISCELLANEOUS] Caused by mutation in the filamin-A gene (FLNA, 300017.0030) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002713 http://purl.bioontology.org/ontology/OMIM/MTHU001469 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU011531 http://purl.bioontology.org/ontology/OMIM/MTHU004733 http://purl.bioontology.org/ontology/OMIM/MTHU065546 http://purl.bioontology.org/ontology/OMIM/MTHU065540 http://purl.bioontology.org/ontology/OMIM/MTHU011913 http://purl.bioontology.org/ontology/OMIM/MTHU065539 http://purl.bioontology.org/ontology/OMIM/MTHU065541 http://purl.bioontology.org/ontology/OMIM/MTHU018026 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU001062 http://purl.bioontology.org/ontology/OMIM/MTHU005753 http://purl.bioontology.org/ontology/OMIM/MTHU068201 http://purl.bioontology.org/ontology/OMIM/MTHU002202 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU068198 http://purl.bioontology.org/ontology/OMIM/MTHU068200 http://purl.bioontology.org/ontology/OMIM/MTHU065545 http://purl.bioontology.org/ontology/OMIM/MTHU065548 http://purl.bioontology.org/ontology/OMIM/MTHU068199 http://purl.bioontology.org/ontology/OMIM/MTHU008431 See more See less
tui	T047
Gene Locus	Xq28
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	314400
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU001678
cui	C0262436
Moved from	305200
OMIM Entry Type	3
OMIM MimType Value	pound

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