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 ×

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene

Retinal ciliopathy due to mutation in RP1 gene

ORPHA:156168

Combined immunodeficiency due to IKBKB gain-of-function mutation

CID due to IKBKB GOF mutation · Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation

ORPHA:700205

Retinal ciliopathy

ORPHA:156165

Retinal ciliopathy due to mutation in Bardet-Biedl gene

ORPHA:156183

Retinal ciliopathy due to mutation in nephronophthisis gene

ORPHA:156180

Retinal ciliopathy due to mutation in the RPGR gene

ORPHA:156171

Retinal ciliopathy due to mutation in the RPGRIP gene

ORPHA:156174

Retinal ciliopathy due to mutation in Usher gene

ORPHA:156177