Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Adult Refsum disease

Classic Refsum disease · HMSN 4

ORPHA:773

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

ORPHA:99950

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

ORPHA:99953

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

ORPHA:166

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

ORPHA:64748

Hereditary motor and sensory neuropathy type 5

Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5

ORPHA:64751

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

ORPHA:90120

Hereditary motor and sensory neuropathy, Okinawa type

HMSNP · Hereditary motor and sensory neuropathy, proximal type

ORPHA:90117