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"

10 matching diseasesClear search ×

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440

OBSOLETE: Acrocephalosyndactyly

OBSOLETE: Acrocephalosyndactylia

ORPHA:946

OBSOLETE: Cobblestone lissencephaly type A

OBSOLETE: Lissencephaly type 2A

ORPHA:352694

OBSOLETE: Cobblestone lissencephaly type B

OBSOLETE: Lissencephaly type 2B

ORPHA:352704

OBSOLETE: Cobblestone lissencephaly type C

OBSOLETE: Lissencephaly type 2C

ORPHA:352699

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

ORPHA:140450

OBSOLETE: Hypodermyiasis

ORPHA:430

OBSOLETE: Isolated megalencephaly

OBSOLETE: Isolated macrencephaly

ORPHA:268920

OBSOLETE: Isolated plagiocephaly

OBSOLETE: Synostotic plagiocephaly · OBSOLETE: Non-syndromic unicoronal synostosis

ORPHA:35098

OBSOLETE: Microlissencephaly type B

ORPHA:101052