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"

156 matching diseasesClear search ×

Singleton-Merten dysplasia

Singleton-Merten syndrome

ORPHA:85191

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

ORPHA:137678

Spontaneous intracranial hypotension

Spontaneous cerebrospinal fluid leak

ORPHA:443180

Subaortic stenosis-short stature syndrome

Onat syndrome

ORPHA:3191

Subpulmonary stenosis

ORPHA:3190

Supravalvular aortic stenosis

SVAS

ORPHA:3193

Supravalvular pulmonary stenosis

ORPHA:3192

Syndrome with pulmonary hypertension as a major feature

ORPHA:275853

Tunnel subaortic stenosis

ORPHA:99053

Valvular pulmonary stenosis

ORPHA:99054

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

ORPHA:3455

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

SJS-TEN · Epidermal necrolysis

ORPHA:95455