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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"
Muscle filaminopathy
FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy
Filamin-related bone disorder
Bone filaminopathy
FLNC-related handgrip and calf weakness-distal myopathy
Distal ABD-filaminopathy
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy
Thrombomodulin-related bleeding disorder
THBD-related bleeding disorder · THBD-related coagulopathy
Wagner disease
Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy