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"

3 matching diseasesClear search ×

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome

ORPHA:2255

Non-specific autoimmune cerebellar ataxia without characteristic antibodies

Non-specific autoimmune CA without characteristic antibodies · Primary Autoimmune Cerebellar Ataxia

ORPHA:624268

Posterior amorphous corneal dystrophy

PACD · Posterior amorphous stromal dystrophy

ORPHA:98971