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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:X-linked cardiac valvular dysplasia
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Accession:DOID:0111765 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: CVD1;   Dystrophie valvulaire associee a FLNA;   EDS 5;   EDS5;   Ehlers-Danlos syndrome type 5;   Ehlers-Danlos syndrome, type V;   FLNA-related X-linked myxomatous valvular dysplasia;   FLNA-related valvular dystrophy;   X-linked myxomatous valvular dystrophy;   XMVD;   congenital valvular heart disease;   filamin A-related X-linked myxomatous valvular dysplasia
 primary_id: MESH:C535576
 alt_id: MESH:C536197;   OMIM:314400
 xref: NCI:C141423;   NCI:C173469;   ORDO:555877
For additional species annotation, visit the Alliance of Genome Resources.

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X-linked cardiac valvular dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by OMIM:314400
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)
ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked		 OMIM
ClinVar		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:16299064 PMID:17190868 PMID:17632775 PMID:24088041 PMID:25741868 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27739212 PMID:28492532 PMID:29237676 PMID:30986657, PMID:17190868 RGD:11565121 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      congenital heart disease 1057
        X-linked cardiac valvular dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2056
        hematopoietic system disease 1639
          blood coagulation disease 623
            hemorrhagic disease 613
              vascular hemostatic disease 297
                Ehlers-Danlos syndrome 104
                  X-linked cardiac valvular dysplasia 1
paths to the root