All patient-facing tools are free · No login required to browse
All access tools are free for patients and caregivers
All community tools are free for patients and caregivers
7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Hallermann-Streiff syndrome
François dyscephalic syndrome · Oculomandibulofacial syndrome
Dermochondrocorneal dystrophy
François syndrome
Diencephalic syndrome
Diencephalic cachexia · Diencephalic syndrome of childhood
Fragile X syndrome
FRAXA syndrome · FXS
Fraser syndrome
Cryptophthalmos-syndactyly syndrome
FRAXF syndrome
Hallermann-Streiff-like syndrome
Dennis-Fairhurst-Moore syndrome · Hallermann-Streiff-François syndrome, severe form
Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome