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 ×

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

ORPHA:255249

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

ORPHA:93114

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

ORPHA:564127

Idiopathic nephrotic syndrome

ORPHA:357502

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ILNEB syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome

ORPHA:306504

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

ORPHA:506

Leigh syndrome with cardiomyopathy

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

ORPHA:70474

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

ORPHA:255241

Rare disease with Pierre Robin syndrome

ORPHA:138044