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"

55 matching diseasesClear search ×

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

ORPHA:397623

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

ORPHA:689822

Subaortic stenosis-short stature syndrome

Onat syndrome

ORPHA:3191

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

W syndrome

Pallister-W syndrome

ORPHA:2804

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

ORPHA:137831