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"

6 matching diseasesClear search ×

Rare non-syndromic intellectual disability

Rare NSID

ORPHA:101685

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

ORPHA:88616

Rare central precocious puberty

Gonadotropin-dependant precocious puberty · Rare CPP

ORPHA:650063

Rare lichen planus

Rare LP

ORPHA:254367

Rare nevus

ORPHA:294057

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778