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"

18 matching diseasesClear search ×

Vulvar intraepithelial neoplasia

VIN · Vulvar intraepithelial tumor

ORPHA:137583

Amoebiasis due to free-living amoebae

ORPHA:68

Congenital enteropathy involving intestinal mucosa development

ORPHA:104007

Hughes-Stovin syndrome

ORPHA:228116

Inflammatory/autoimmune disorder involving the lacrimal system

ORPHA:519264

Kleine-Levin syndrome

ORPHA:33543

Maternal riboflavin deficiency

ORPHA:411712

Metabolic disease involving other neurotransmitter deficiency

ORPHA:79219

OBSOLETE: Lown-Ganong-Levine syndrome

OBSOLETE: LGL syndrome · OBSOLETE: Atrial tachyarrhythmia with short PR interval

ORPHA:844

Painful legs and moving toes syndrome

PLMT syndrome

ORPHA:617440

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

ORPHA:54028

Rare disease involving intestinal motility

ORPHA:104009

Rare disorder involving multiple structures of the eye

ORPHA:519329

Rare genetic disorder involving multiple structures of the eye

ORPHA:522578

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

ORPHA:99852

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

ORPHA:97229

Self-improving collodion baby

Self-healing collodion baby · SHCB

ORPHA:281122

Self-improving dystrophic epidermolysis bullosa

Self-improving DEB · Transient bullous dermolysis of the newborn

ORPHA:79411