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"

3 matching diseasesClear search ×

Aminopterin/methotrexate embryofetopathy

Aminopterin embryopathy syndrome · Fetal aminopterin syndrome

ORPHA:1908

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

ORPHA:221120

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914