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"

9 matching diseasesClear search ×

OBSOLETE: Preeyasombat-Varavithya syndrome

OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome

ORPHA:2860

3M syndrome

3-M syndrome · Yakut short stature syndrome

ORPHA:2616

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

ORPHA:93604

OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome

OBSOLETE: Blethen-Wenick-Hawkins syndrome

ORPHA:2626

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

ORPHA:1088

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

ORPHA:2861

OBSOLETE: Short stature-prognathism-short femoral necks syndrome

ORPHA:2864

OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

ORPHA:79132

Subaortic stenosis-short stature syndrome

Onat syndrome

ORPHA:3191