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"

60 matching diseasesClear search ×

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

ORPHA:1437

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

ORPHA:96175

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

ORPHA:1446

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

ORPHA:1447

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

ORPHA:1450

Ring dermoid of cornea

Ring dermoid syndrome

ORPHA:91481

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

ORPHA:686488

Rombo syndrome

ORPHA:3110

Rotor syndrome

Hyperbilirubinemia, Rotor type

ORPHA:3111

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

ORPHA:818

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

ORPHA:857

W syndrome

Pallister-W syndrome

ORPHA:2804