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 ×

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Alloimmune neonatal renal disease · FMAIG

ORPHA:69063

Fetal and neonatal alloimmune thrombocytopenia

FNAIT · NAIT

ORPHA:853

HSD10 disease, neonatal type

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

ORPHA:391457

Neonatal alloimmune neutropenia

Rare adrenal disease

Rare immune disease

Rare renal disease

Secondary neonatal autoimmune disease

Transplacentally acquired neonatal autoimmune disease

ORPHA:398091

Severe Canavan disease

Infantile Canavan disease · Neonatal Canavan disease

ORPHA:314911