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 ×

Ischio-vertebral syndrome

Ischiospinal dysostosis · Ischiovertebral dysplasia

ORPHA:85200

Acropectorovertebral dysplasia

F syndrome

ORPHA:957

Cerebral cortical dysplasia

Brain cortical dysplasia

ORPHA:268950

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

ORPHA:1509

Renal dysplasia

Kidney dysplasia

ORPHA:93108