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"

2 matching diseasesClear search ×

Ogden syndrome

Premature aging appearance-developmental delay-cardiac arrhythmia syndrome

ORPHA:276432

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

ORPHA:401764