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"

14 matching diseasesClear search ×

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

OBSOLETE: Allain-Babin-Demarquez syndrome · OBSOLETE: Acro-cephalo-synostosis

ORPHA:1526

OBSOLETE: Acrocephalosyndactyly

OBSOLETE: Acrocephalosyndactylia

ORPHA:946

OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome

OBSOLETE: Jorgenson-Lenz syndrome

ORPHA:1256

OBSOLETE: Craniosynostosis-cataract syndrome

ORPHA:1530

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

ORPHA:1533

OBSOLETE: Familial lambdoid synostosis

ORPHA:3267

OBSOLETE: Humero-radial synostosis, bilateral

OBSOLETE: Humero-radial fusion, bilateral

ORPHA:295211

OBSOLETE: Humero-radial synostosis, unilateral

OBSOLETE: Humero-radial fusion, unilateral

ORPHA:295209

OBSOLETE: Humero-ulnar synostosis, bilateral

OBSOLETE: Humero-ulnar fusion, bilateral

ORPHA:295215

OBSOLETE: Humero-ulnar synostosis, unilateral

OBSOLETE: Humero-ulnar fusion, unilateral

ORPHA:295213

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440

OBSOLETE: Isolated plagiocephaly

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

ORPHA:35098

OBSOLETE: Radio-ulnar synostosis, bilateral

OBSOLETE: Radio-ulnar fusion, bilateral

ORPHA:295219

OBSOLETE: Radio-ulnar synostosis, unilateral

OBSOLETE: Radio-ulnar fusion, unilateral

ORPHA:295217