Rare Disease Library

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

Autosomal dominant ACTN2-related distal myopathy

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant Alport syndrome

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant aplastic anemia and myelodysplasia

Autosomal dominant brachyolmia

Brachyolmia type 3

Autosomal dominant centronuclear myopathy

AD-CNM

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

CMT2A1

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

CMT2A2

Autosomal dominant Charcot-Marie-Tooth disease type 2B

CMT2B

Autosomal dominant Charcot-Marie-Tooth disease type 2C

CMT2C

Autosomal dominant Charcot-Marie-Tooth disease type 2D

CMT2D

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

CMT2DD · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant Charcot-Marie-Tooth disease type 2E

CMT2E

Autosomal dominant Charcot-Marie-Tooth disease type 2F

CMT2F

Autosomal dominant Charcot-Marie-Tooth disease type 2G

CMT2G

Autosomal dominant Charcot-Marie-Tooth disease type 2I

CMT2I

Autosomal dominant Charcot-Marie-Tooth disease type 2J

CMT2J

Autosomal dominant Charcot-Marie-Tooth disease type 2K

CMT2K

Autosomal dominant Charcot-Marie-Tooth disease type 2L

CMT2L

Autosomal dominant Charcot-Marie-Tooth disease type 2M

CMT2M

Autosomal dominant Charcot-Marie-Tooth disease type 2N

CMT2N

Autosomal dominant Charcot-Marie-Tooth disease type 2O

CMT2O

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

CMT2Q

Autosomal dominant Charcot-Marie-Tooth disease type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation · CMT2U

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V

Autosomal dominant Charcot-Marie-Tooth disease type 2W

CMT2W · Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

CMT2 due to VCP mutation · CMT2Y

Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation · CMT2Z

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

AD-CID due to ERBIN deficiency · Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

Autosomal dominant cutis laxa

ADCL

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant distal myopathy

Autosomal dominant distal nebulin myopathy

Autosomal dominant distal renal tubular acidosis

AD dRTA

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

Autosomal dominant focal dystonia, DYT25 type

DYT25 · Dystonia 25

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type