Rare Disease Library

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"

9 matching diseasesClear search ×

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

ORPHA:140905

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

ORPHA:263455

Glycogen storage disease due to hepatic glycogen synthase deficiency

GSD due to hepatic glycogen synthase deficiency · GSD type 0a

ORPHA:2089

Hemolytic anemia due to diphosphoglycerate mutase deficiency

ORPHA:714

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

ORPHA:324575

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

ORPHA:263458

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 deficiency

ORPHA:276556

Neutral lipid storage disease with myopathy

Neutral lipid storage disease type M · NLSDM

ORPHA:98908

Pancreatic triacylglycerol lipase deficiency

Pancreatic triglyceride lipase deficiency

ORPHA:309031