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"

9 matching diseasesClear search ×

OBSOLETE: Adactyly of hand

OBSOLETE: Fingers absent

ORPHA:294931

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

ORPHA:306588

OBSOLETE: Brachydactyly of fingers

OBSOLETE: Short fingers

ORPHA:294996

OBSOLETE: Brachydactyly of fingers, bilateral

OBSOLETE: Short fingers, bilateral

ORPHA:295130

OBSOLETE: Brachydactyly of fingers, unilateral

OBSOLETE: Short fingers, unilateral

ORPHA:295128

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

ORPHA:99654

OBSOLETE: Postaxial polydactyly of fingers

OBSOLETE: Postaxial polydactyly of hand

ORPHA:294942

OBSOLETE: Preaxial polydactyly of fingers

OBSOLETE: Preaxial polydactyly of hand

ORPHA:294939