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"

8 matching diseasesClear search ×

Neutral lipid storage disease with myopathy

Neutral lipid storage disease type M · NLSDM

ORPHA:98908

Glycerol kinase deficiency

ORPHA:308993

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

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

ORPHA:140905

Lipoyl transferase 1 deficiency

ORPHA:401862

Lipoyl transferase 2 deficiency

ORPHA:447795

Lysosomal acid lipase deficiency

LAL deficiency · LALD

ORPHA:275761

Pancreatic triacylglycerol lipase deficiency

Pancreatic triglyceride lipase deficiency

ORPHA:309031

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

ORPHA:255182