Rare Disease Library

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

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

Autosomal dominant intermediate Charcot-Marie-Tooth disease

CMTDI

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

CMTDIA

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

CMTDIB

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

CMTDIC

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

CMTDIF

Autosomal recessive intermediate Charcot-Marie-Tooth disease

RI-CMT

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease