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"

51 matching diseasesClear search ×

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

ORPHA:2543

OBSOLETE: Non-progressive congenital heart block

ORPHA:99648

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

ORPHA:93937

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Medical Disclaimer: UniteRare provides information for educational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult your physician or qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you have read on this site. Information is sourced from FDA, ClinicalTrials.gov, Orphanet, OMIM, and NORD. Report inaccuracies using the 🚩 flag icon on any data card. Browse diseases · News · Community