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"

6 matching diseasesClear search ×

MBD4-related tumor predisposition syndrome

ORPHA:661526

Marchiafava-Bignami disease

MBD

ORPHA:221074

Non-syndromic bilambdoid and sagittal craniosynostosis

Non-syndromic sagittal and bilateral lambdoid synostosis · Bilateral lambdoid and sagittal synostosis

ORPHA:1516

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

ORPHA:620178

Non-syndromic unilambdoid craniosynostosis

Isolated unilamboid craniosynostosis · Non-syndromic unilateral lambdoid synostosis

ORPHA:620113

OBSOLETE: Familial lambdoid synostosis

ORPHA:3267