Rare Disease Library

Autosomal dominant secondary polycythemia

Autosomal dominant secondary erythrocytosis

Autosomal dominant severe congenital neutropenia

Autosomal dominant spastic ataxia

AD-SPAX

Autosomal dominant spastic ataxia type 1

SPAX1

Autosomal dominant spastic paraplegia type 10

SPG10

Autosomal dominant spastic paraplegia type 12

SPG12

Autosomal dominant spastic paraplegia type 13

SPG13

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal dominant spastic paraplegia type 19

SPG19

Autosomal dominant spastic paraplegia type 29

SPG29

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

Autosomal dominant spastic paraplegia type 31

SPG31

Autosomal dominant spastic paraplegia type 36

SPG36

Autosomal dominant spastic paraplegia type 37

SPG37

Autosomal dominant spastic paraplegia type 38

SPG38

Autosomal dominant spastic paraplegia type 4

SPG4

Autosomal dominant spastic paraplegia type 41

SPG41

Autosomal dominant spastic paraplegia type 42

SPG42

Autosomal dominant spastic paraplegia type 6

SPG6

Autosomal dominant spastic paraplegia type 73

SPG73

Autosomal dominant spastic paraplegia type 8

SPG8

Autosomal dominant spastic paraplegia type 80

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

Autosomal dominant spastic paraplegia type 9B

AD-SPG9B

Autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

Autosomal dominant striatal neurodegeneration

ADSD

Autosomal dominant vitreoretinochoroidopathy

ADVIRC

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Epilepsy with auditory features

Autosomal dominant epilepsy with auditory features · EAF

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

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

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia