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"

55 matching diseasesClear search ×

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

ORPHA:1450

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

ORPHA:686488

Rombo syndrome

ORPHA:3110

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

ORPHA:818

Thoracolaryngopelvic dysplasia

Barnes syndrome

ORPHA:3317

Townes-Brocks syndrome

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

ORPHA:857

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

ORPHA:1264