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 ×

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

ORPHA:1916

Cocaine embryofetopathy

Fetal cocaine syndrome

ORPHA:1911

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

ORPHA:858

Fetal hydantoin syndrome

Fetal dihydantoin syndrome · Phenytoin embryofetopathy

ORPHA:1912

Indomethacin embryofetopathy

Fetal indomethacin syndrome

ORPHA:1909

Infectious embryofetopathy

ORPHA:232035

Methimazole embryofetopathy

Methimazole/carbimazole embryofetopathy · Methimazole/carbimazole embryopathy

ORPHA:1923

Propylthiouracil embryofetopathy

PTU embryofetopathy · PTU embryopathy

ORPHA:485358

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914