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"

26 matching diseasesClear search ×

Lewis-Sumner syndrome

MADSAM · Multifocal acquired demyelinating sensory and motor neuropathy

ORPHA:48162

Acquired sensory ganglionopathy

Acquired sensory neuronopathy

ORPHA:208984

Acute and subacute inflammatory demyelinating polyneuropathy

Acute and subacute inflammatory demyelinating polyradiculoneuropathy

ORPHA:207038

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

ORPHA:98917

Adult Refsum disease

Classic Refsum disease · HMSN 4

ORPHA:773

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

ORPHA:64746

Autosomal dominant hereditary axonal motor and sensory neuropathy

ORPHA:140456

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

ORPHA:140453

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

ORPHA:140459

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

ORPHA:476109

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

ORPHA:65753

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

ORPHA:99950

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

ORPHA:99953

Chronic acquired demyelinating polyneuropathy

CADP

ORPHA:208974

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

ORPHA:64748

Demyelinating hereditary motor and sensory neuropathy

Demyelinating HMSN

ORPHA:476116

Facial onset sensory and motor neuronopathy

FOSMN syndrome

ORPHA:85162

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 with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

ORPHA:90119

Hereditary motor and sensory neuropathy, Okinawa type

HMSNP · Hereditary motor and sensory neuropathy, proximal type

ORPHA:90117

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

ORPHA:476123

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

ORPHA:686999

Multifocal motor neuropathy

MMN · MMNCB

ORPHA:641

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

ORPHA:140450

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

ORPHA:64747