Rare Disease Library

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Sickle cell-beta plus-thalassemia

HbS-beta plus-thalassemia · HbS-beta+ thalassemia

Sickle cell-beta zero-thalassemia

HbS-beta0 thalassemia · HbS-beta zero-thalassemia

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Syndromic beta-thalassemia

Variant ABeta2M amyloidosis

Autosomal dominant beta2-microglobulinic amyloidosis