Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

9 matching diseasesClear search ×

Factor V short isoforms-related bleeding disorder

FV short isoforms-related bleeding disorder

ORPHA:599519

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

ORPHA:371195

East Texas bleeding disorder

Factor V East Texas bleeding disorder · FV East Texas bleeding disorder

ORPHA:391320

Factor V Amsterdam bleeding disorder

FV Amsterdam bleeding disorder

ORPHA:599579

Factor V Atlanta bleeding disorder

FV Atlanta bleeding disorder

ORPHA:600194

Filamin-related bone disorder

Bone filaminopathy

ORPHA:93425

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

ORPHA:182050

Rare hemorrhagic disorder

Rare bleeding disorder

ORPHA:248308

Thrombomodulin-related bleeding disorder

THBD-related bleeding disorder · THBD-related coagulopathy

ORPHA:436169