Rare Disease Library

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

American trypanosomiasis

Chagas disease

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

Charcot-Marie-Tooth disease type 1A

CMT1A · Microduplication 17p12

Charcot-Marie-Tooth disease type 1B

CMT1B

Charcot-Marie-Tooth disease type 1C

CMT1C

Charcot-Marie-Tooth disease type 1D

CMT1D

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

Charcot-Marie-Tooth disease type 1F

CMT1F

Charcot-Marie-Tooth disease type 2B1

AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

AR-CMT2B2 · Autosomal recessive axonal CMT4C3

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

Charcot-Marie-Tooth disease type 2P

CMT2P

Charcot-Marie-Tooth disease type 2R

CMT2R

Charcot-Marie-Tooth disease type 2S

CMT2S

Charcot-Marie-Tooth disease type 2T

CMT2T · AR-CMT2T

Charcot-Marie-Tooth disease type 4

AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth

Charcot-Marie-Tooth disease type 4A

CMT4A

Charcot-Marie-Tooth disease type 4B1

CMT4B1

Charcot-Marie-Tooth disease type 4B2

CMT4B2

Charcot-Marie-Tooth disease type 4B3

CMT4B3 · Charcot-Marie-Tooth disease with focally folded myelin

Charcot-Marie-Tooth disease type 4C

CMT4C

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

Charcot-Marie-Tooth disease type 4F

CMT4F

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

Charcot-Marie-Tooth disease type 4H

CMT4H

Charcot-Marie-Tooth disease type 4J

CMT4J

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Juvenile CLN1 disease

Juvenile neuronal ceroid lipofuscinosis type 1

Juvenile CLN10 disease

Juvenile neuronal ceroid lipofuscinosis type 10

Juvenile CLN2 disease

Juvenile neuronal ceroid lipofuscinosis type 2

Juvenile CLN3 disease

Juvenile neuronal ceroid lipofuscinosis type 3

Juvenile CLN5 disease

Juvenile neuronal ceroid lipofuscinosis type 5

Juvenile CLN6 disease

Juvenile neuronal ceroid lipofuscinosis type 6

Juvenile dermatomyositis

Juvenile DM

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

Juvenile-onset Steinert myotonic dystrophy

Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Mild Canavan disease

Juvenile Canavan disease