Rare Disease Library

Autosomal dominant cerebellar ataxia type II

ADCA2 · ADCAII

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

SCAR21 · Autosomal recessive spinocerebellar ataxia type 21

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 10 · SCAR10

Albers-Schönberg osteopetrosis

Osteopetrosis autosomal dominant type 2

Autosomal dominant brachyolmia

Brachyolmia type 3

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Autosomal dominant cerebellar ataxia type III

ADCA3 · ADCAIII

Autosomal dominant cerebellar ataxia type IV

ADCA4 · ADCAIV

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

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 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 focal dystonia, DYT25 type

DYT25 · Dystonia 25

Autosomal dominant hypocalcemia

AD hypocalcemia

Autosomal dominant keratitis

Hereditary keratitis

Autosomal dominant limb-girdle muscular dystrophy type 1A

LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1B

LGMD1B · Limb-girdle muscular dystrophy due to lamin A/C deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1C

LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1E

LGMD1E

Autosomal dominant myoglobinuria

Autosomal dominant omodysplasia

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy