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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;   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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Ehlers-Danlos syndrome 104
        X-linked cardiac valvular dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          blood coagulation disease 623
            hemorrhagic disease 610
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  X-linked cardiac valvular dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.