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"

8 matching diseasesClear search ×

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778

Interatrial communication

ASD · Atrial septal defect

ORPHA:1478

Rare allergic disease

Rare allergy

ORPHA:98050

Rare anemia

ORPHA:108997

Rare ataxia

ORPHA:102002

Rare central precocious puberty

Gonadotropin-dependant precocious puberty · Rare CPP

ORPHA:650063

Rare lichen planus

Rare LP

ORPHA:254367

Rare non-syndromic intellectual disability

Rare NSID

ORPHA:101685