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 ×

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

ORPHA:178364

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

ORPHA:202948

← PrevPage 2 of 2

UniteRare^®

Legal

7 Patents FiledHIPAA-AlignedEvidence-BasedFree for Patients

Medical Disclaimer: UniteRare provides information for educational purposes only. Nothing on this platform constitutes medical advice, diagnosis, or treatment. Always seek guidance from a qualified healthcare provider.

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