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"

3 matching diseasesClear search ×

Recurrent infections due to specific granule deficiency

Neutrophil-specific granule deficiency

ORPHA:169142

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

ORPHA:734

Gray platelet syndrome

Alpha storage pool deficiency · GPS

ORPHA:721