GenTIGSA Gene Database on Rare Genetic Disorders
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Hereditary Hemorrhagic Telangiectasia  
Disease Aliases (33)

Eng-related hereditary hemorrhagic telangiectasia

Hht

Hht - hereditary hemorrhagic telangiectasia

Hht1

Hemorrhagic telangiectasia, hereditary

Hereditary hemorrhagic telangiectasia

Orw disease

Osler-rendu-weber disease

Osler disease

Osler rendu disease

Osler rendu weber disease

Osler weber rendu syndrome

Osler weber rendu syndrome type 1

Osler hemorrhagic telangiectasia syndrome

Osler's disease

Osler-rendu disease

Osler-rendu-weber syndrome

Osler-weber-rendu syndrome

Osler-weber-rendu disease

Rendu osler weber disease

Rendu-osler disease

Rendu-osler-weber disease

Telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber

Telangiectasia, hereditary hemorrhagic, type 1

Weber osler disease

Weber osler syndrome

Weber-osler disease

Weber-osler syndrome

Hereditary hemorrhagic telangiectasia type 1

Telangiectasia, hereditary hemorrahagic, of rendu, osler

Telangiectasia, hereditary hemorrhagic

Telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber; hht

Telangiectasia, hereditary hemorrhagic, type 1; hht1

Associated Genes (4)
 

NCBI-RefSeq:  ACVRL1   (Activin A receptor like type 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ENG   (Endoglin)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GDF2   (Growth differentiation factor 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SMAD4   (SMAD family member 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Hereditary hemorrhagic telangiectasia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations