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"

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Transient infantile hypertriglyceridemia and hepatosteatosis

Transient infantile hypertriglyceridemia and fatty liver

ORPHA:300293

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea

ORPHA:84064

Undifferentiated carcinoma of liver and intrahepatic biliary tract

Undifferentiated carcinoma of liver and IBT

ORPHA:424970

Hereditary elliptocytosis

ORPHA:288

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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