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"

199 matching diseasesClear search ×

Subaortic stenosis-short stature syndrome

Onat syndrome

ORPHA:3191

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

ORPHA:3301

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

W syndrome

Pallister-W syndrome

ORPHA:2804

White platelet syndrome

ORPHA:370131

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

ORPHA:137831