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"

29 matching diseasesClear search ×

Acquired sensory ganglionopathy

Acquired sensory neuronopathy

ORPHA:208984

Acquired amyloid peripheral neuropathy

ORPHA:209013

Acquired peripheral neuropathy

ORPHA:182086

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

ORPHA:98917

Acute pure sensory neuropathy

Acute pure sensory GBS · Acute pure sensory Guillain-Barré syndrome

ORPHA:231450

Acute sensory ataxic neuropathy

ASAN · Acute sensory ataxic GBS

ORPHA:231466

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

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

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

ORPHA:64748

Facial onset sensory and motor neuronopathy

FOSMN syndrome

ORPHA:85162

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

ORPHA:1764

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 sensory and autonomic neuropathy

HSAN

ORPHA:140471

Hereditary sensory and autonomic neuropathy type 1

HSAN1 · Hereditary sensory and autonomic neuropathy type I

ORPHA:36386

Hereditary sensory and autonomic neuropathy type 1B

HSAN with cough and gastroesophageal reflux · HSAN1B

ORPHA:139564

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

ORPHA:970

Hereditary sensory and autonomic neuropathy type 4

HSAN4 · CIPA

ORPHA:642

Hereditary sensory and autonomic neuropathy type 5

Congenital insensitivity to pain and thermal analgesia · HSAN5

ORPHA:64752

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures

ORPHA:314381

Hereditary sensory and autonomic neuropathy type 7

CIP with hyperhidrosis and gastrointestinal dysfunction · Hereditary sensory and autonomic neuropathy type VII

ORPHA:391397

Hereditary sensory and autonomic neuropathy type 8

HSAN8 · Hereditary sensory and autonomic neuropathy type VIII

ORPHA:478664

Lewis-Sumner syndrome

MADSAM · Multifocal acquired demyelinating sensory and motor neuropathy

ORPHA:48162

Non-paraneoplastic sensory ganglionopathy

Non-paraneoplastic sensory neuronopathy

ORPHA:208989

OBSOLETE: Acquired metabolic neuropathy

ORPHA:206616

Paraneoplastic sensory ganglionopathy

Paraneoplastic sensory neuronopathy

ORPHA:208999

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

ORPHA:64747