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"

7 matching diseasesClear search ×

Primary triglyceride deposit cardiomyovasculopathy

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

ORPHA:565612

Idiopathic triglyceride deposit cardiomyovasculopathy

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

ORPHA:692296

Lysosomal storage disease with skeletal involvement

Dysostosis multiplex

ORPHA:93448

Neutral lipid storage disease

Lipidosis with triglyceride storage disease

ORPHA:165

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

ORPHA:98907

Neutral lipid storage disease with myopathy

Neutral lipid storage disease type M · NLSDM

ORPHA:98908

Triglyceride deposit cardiomyovasculopathy

Neutral lipid storage disease with severe cardiovascular involvement · TGCV

ORPHA:692305