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"

10 matching diseasesClear search ×

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

ORPHA:2209

Classic phenylketonuria

Classic PKU · PKU

ORPHA:79254

Diabetic embryopathy

Diabetes-induced teratogenicity

ORPHA:1926

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

ORPHA:226

Fetal hydantoin syndrome

Fetal dihydantoin syndrome · Phenytoin embryofetopathy

ORPHA:1912

Mild phenylketonuria

Mild PKU · mPKU

ORPHA:79253

Mycophenolate mofetil embryopathy

MMF embryopathy

ORPHA:268249

Phenobarbital embryopathy

ORPHA:1919

Phenylketonuria

PKU

ORPHA:716

Propylthiouracil embryofetopathy

PTU embryofetopathy · PTU embryopathy

ORPHA:485358