Rare Disease Library

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD