MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED

VALVULAR HEART DISEASE, CONGENITAL

EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY

XMVD

CVDPX

EDS5, FORMERLY

http://purl.bioontology.org/ontology/OMIM/314400

MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED

VALVULAR HEART DISEASE, CONGENITAL

EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY

XMVD

CVDPX

EDS5, FORMERLY

C0262436

Xq28

CSBS

FLNA

OPD1

NHBP

CVD1

FLN1

FGS2

FMD

OPD2

MNS

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

Phenotype description, molecular basis known.

305200

314400

3

pound

CARDIAC VALVULAR DYSPLASIA, X-LINKED

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]

T047