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 ×

Severe Canavan disease

Infantile Canavan disease · Neonatal Canavan disease

ORPHA:314911

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

ORPHA:141

Cap myopathy

Cap disease

ORPHA:171881

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Alloimmune neonatal renal disease · FMAIG

ORPHA:69063

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

ORPHA:391457

Mild Canavan disease

Juvenile Canavan disease

ORPHA:314918

Neonatal dermatomyositis

Neonatal DM

ORPHA:398117

Secondary neonatal autoimmune disease

Transplacentally acquired neonatal autoimmune disease

ORPHA:398091