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"

200 matching diseasesClear search ×

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

ORPHA:97282

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914

W syndrome

Pallister-W syndrome

ORPHA:2804

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

ORPHA:3463

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

ORPHA:1409