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"

54 matching diseasesClear search ×

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

ORPHA:818

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

ORPHA:820

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

ORPHA:49827

Townes-Brocks syndrome

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

ORPHA:857

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320