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"

198 matching diseasesClear search ×

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

ORPHA:1409

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

ORPHA:363727

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

ORPHA:85333

X-linked thrombocytopenia with normal platelets

ORPHA:852

Trigeminal trophic syndrome

TTS · Trigeminal neurotrophic ulceration

ORPHA:664901