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"

5 matching diseasesClear search ×

Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

Woods-Crouchman-Huson syndrome

ORPHA:137658

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

ORPHA:1380

Crouzon syndrome

Crouzon craniofacial dysostosis

ORPHA:207

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

ORPHA:2719

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

ORPHA:811