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About: X-linked cardiac valvular dysplasia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

AttributesValues
type
subClassOf
label
  • X-linked cardiac valvular dysplasia
described by
id
  • DOID:0111765
database_cross_reference
  • MESH:C536197
  • NCI:C141423
  • OMIM:314400
  • ORDO:555877
  • SNOMEDCT_US_2021_09_01:67202007
  • UMLS_CUI:C0268341
has_exact_synonym
  • CVD1
  • Dystrophie valvulaire associee a FLNA
  • EDS 5
  • Ehlers-Danlos syndrome, type 5
  • FLNA-related valvular dystrophy
  • XMVD
  • FLNA-related X-linked myxomatous valvular dysplasia
  • Filamin A-related X-linked myxomatous valvular dysplasia
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28.
is topic of
is annotatedSource of
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