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 ×

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

ORPHA:859

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

ORPHA:882

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601

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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