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"

8 matching diseasesClear search ×

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

ORPHA:2108

Dermochondrocorneal dystrophy

François syndrome

ORPHA:79149

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

ORPHA:1672

Fragile X syndrome

FRAXA syndrome · FXS

ORPHA:908

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

ORPHA:2052

FRAXF syndrome

ORPHA:100974

Hallermann-Streiff-like syndrome

Dennis-Fairhurst-Moore syndrome · Hallermann-Streiff-François syndrome, severe form

ORPHA:2109

Male infertility due to acephalic spermatozoa

Acephalic spermatozoa syndrome

ORPHA:529970