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"

20 matching diseasesClear search ×

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

ORPHA:620178

Isolated anencephaly

ORPHA:563609

Isolated anencephaly/exencephaly

ORPHA:1048

Isolated arhinencephaly

ORPHA:268936

Isolated congenital microcephaly

ORPHA:199642

Isolated encephalocele

ORPHA:199647

Isolated exencephaly

ORPHA:563612

Isolated idiopathic anterior uveitis

Isolated IAU

ORPHA:280914

Isolated megalencephaly

ORPHA:2477

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

ORPHA:99885

Isolated persistent urogenital sinus

Isolated PUGS

ORPHA:647794

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

ORPHA:647772

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

ORPHA:35099

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

Non-syndromic unicoronal craniosynostosis

Isolated unicoronal craniosynostosis · Non-syndromic unilateral coronal synostosis

ORPHA:620102

Non-syndromic unilambdoid craniosynostosis

Isolated unilamboid craniosynostosis · Non-syndromic unilateral lambdoid synostosis

ORPHA:620113

OBSOLETE: Isolated megalencephaly

OBSOLETE: Isolated macrencephaly

ORPHA:268920

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440

OBSOLETE: Isolated plagiocephaly

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

ORPHA:35098