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"

16 matching diseasesClear search ×

Hereditary sensory and autonomic neuropathy type 5

Congenital insensitivity to pain and thermal analgesia · HSAN5

ORPHA:64752

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

ORPHA:2978

Hereditary sensory and autonomic neuropathy type 4

HSAN4 · CIPA

ORPHA:642

Hereditary sensory and autonomic neuropathy type 7

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

ORPHA:391397

Bilateral parasagittal parieto-occipital polymicrogyria

ORPHA:208441

Calciphylaxis

ORPHA:280062

Calciphylaxis cutis

ORPHA:280065

Childhood occipital visual epilepsy

COVE · Idiopathic chilldhood occipital epilepsy-Gastaut type

ORPHA:98816

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925

Occipital encephalocele

ORPHA:268823

Occipital horn syndrome

ORPHA:198

Occipital pachygyria and polymicrogyria

Occipital MCD · Occipital malformations of cortical development

ORPHA:280640

Photosensitive occipital lobe epilepsy

POLE

ORPHA:166409

Recurrent hepatitis C virus induced liver disease in liver transplant recipients

ORPHA:90052

Self-limited childhood occipital epilepsy

Benign occipital epilepsy

ORPHA:25968

Visceral calciphylaxis

ORPHA:280068