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"

17 matching diseasesClear search ×

Propylthiouracil embryofetopathy

PTU embryofetopathy · PTU embryopathy

ORPHA:485358

Acitretin/etretinate embryopathy

Fetal acitretin/etretinate syndrome · Retinoid embryopathy

ORPHA:40366

Cocaine embryofetopathy

Fetal cocaine syndrome

ORPHA:1911

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

ORPHA:858

Diabetic embryopathy

Diabetes-induced teratogenicity

ORPHA:1926

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

ORPHA:1916

Fetal hydantoin syndrome

Fetal dihydantoin syndrome · Phenytoin embryofetopathy

ORPHA:1912

Fetal valproate spectrum disorder

Fetal valproic acid syndrome · Valproic acid embryopathy

ORPHA:1906

Isotretinoin syndrome

Isotretinoin embryopathy · Retinoic acid embryopathy

ORPHA:2305

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

ORPHA:2209

Methimazole embryofetopathy

Methimazole/carbimazole embryofetopathy · Methimazole/carbimazole embryopathy

ORPHA:1923

Mycophenolate mofetil embryopathy

MMF embryopathy

ORPHA:268249

Phenobarbital embryopathy

ORPHA:1919

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Thalidomide embryopathy

Fetal thalidomide syndrome

ORPHA:3312

Toluene embryopathy

ORPHA:1920

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914