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"

52 matching diseasesClear search ×

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

ORPHA:760

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

ORPHA:79272

Trehalase deficiency

Isolated trehalose intolerance

ORPHA:103909

Vitamin B12-unresponsive methylmalonic acidemia

Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria

ORPHA:27

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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