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"

2 matching diseasesClear search ×

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

ORPHA:88616

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

ORPHA:634