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"

7 matching diseasesClear search ×

Karsch-Neugebauer syndrome

Split hand/split foot-nystagmus syndrome

ORPHA:2329

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

ORPHA:958

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

ORPHA:2438

Heart-hand syndrome

Atriodigital dysplasia

ORPHA:228184

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

ORPHA:186

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

ORPHA:71271

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

ORPHA:1122