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"

3 matching diseasesClear search ×

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

ORPHA:97229

Spastic paraplegia-facial-cutaneous lesions syndrome

Bahemuka-Brown syndrome

ORPHA:2819

Tatton-Brown-Rahman syndrome

DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome

ORPHA:404443