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 ×

Neutral lipid storage disease with myopathy

Neutral lipid storage disease type M · NLSDM

ORPHA:98908

Idiopathic triglyceride deposit cardiomyovasculopathy

Idiopathic neutral lipid storage disease with severe cardiovascular involvement · I-TGCV

ORPHA:692296

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

ORPHA:70474

Lipid storage disease

ORPHA:79204

Muscular lipidosis

Lipid storage myopathy

ORPHA:206953

Neutral lipid storage disease

Lipidosis with triglyceride storage disease

ORPHA:165

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

ORPHA:98907

Primary triglyceride deposit cardiomyovasculopathy

Primary neutral lipid storage disease with severe cardiovascular involvement · P-TGCV

ORPHA:565612

Triglyceride deposit cardiomyovasculopathy

Neutral lipid storage disease with severe cardiovascular involvement · TGCV

ORPHA:692305