Rare Disease Library

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

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

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

Oligodontia-cancer predisposition syndrome

Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

Partial autosomal deletion syndrome

Partial autosomal monosomy

Partial autosomal duplication/triplication syndrome

Partial autosomal trisomy/tetrasomy

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant isolated neurosensory deafness type DFNA · Autosomal dominant isolated neurosensory hearing loss type DFNA

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Total autosomal monosomy syndrome

Total autosomal trisomy syndrome

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia