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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 the FLNA gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: CVD1;   CVDPX;   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



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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 DNA:missense mutations, deletion:cds, exons, introns:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked
OMIM
CTD
ClinVar
RGD
PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More... RGD:11565121 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    physical disorder 4940
      congenital heart disease 1340
        X-linked cardiac valvular dysplasia 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        Neurologic Manifestations 9994
          sensory system disease 6891
            skin disease 3916
              Skin Abnormalities 1294
                Ehlers-Danlos syndrome 252
                  X-linked cardiac valvular dysplasia 1
paths to the root