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"

19 matching diseasesClear search ×

OBSOLETE: Isolated megalencephaly

OBSOLETE: Isolated macrencephaly

ORPHA:268920

Isolated anencephaly

ORPHA:563609

Isolated anencephaly/exencephaly

ORPHA:1048

Isolated arhinencephaly

ORPHA:268936

Isolated encephalocele

ORPHA:199647

Isolated exencephaly

ORPHA:563612

Isolated megalencephaly

ORPHA:2477

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

ORPHA:620178

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

ORPHA:3366

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

ORPHA:35093

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: Isolated facial myokymia

ORPHA:221106

OBSOLETE: Isolated macular dystrophy

ORPHA:519302

OBSOLETE: Isolated microphakia

ORPHA:519394

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440

OBSOLETE: Isolated plagiocephaly

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

ORPHA:35098

OBSOLETE: Microlissencephaly type B

ORPHA:101052