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"

26 matching diseasesClear search ×

Thalidomide embryopathy

Fetal thalidomide syndrome

ORPHA:3312

Acropectorovertebral dysplasia

F syndrome

ORPHA:957

Aminopterin/methotrexate embryofetopathy

Aminopterin embryopathy syndrome · Fetal aminopterin syndrome

ORPHA:1908

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

ORPHA:1451

Cocaine embryofetopathy

Fetal cocaine syndrome

ORPHA:1911

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

ORPHA:329

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

ORPHA:290

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

ORPHA:47612

Fetal alcohol syndrome

ARBD · ARND

ORPHA:1915

Fetal anticonvulsant syndrome

FACS · Fetal AEDS

ORPHA:370068

Fetal carbamazepine syndrome

ORPHA:370076

Fetal cytomegalovirus syndrome

Mother-to-child transmission of cytomegalovirus syndrome · Antenatal cytomegalovirus infection

ORPHA:294

Fetal encasement syndrome

ORPHA:465824

Fetal hydantoin syndrome

Fetal dihydantoin syndrome · Phenytoin embryofetopathy

ORPHA:1912

Fetal iodine syndrome

ORPHA:1910

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

ORPHA:1917

Fetal minoxidil syndrome

Minoxidil antenatal exposure

ORPHA:1918

Fetal parvovirus syndrome

Mother-to-child transmission of parvovirus syndrome · Parvovirus antenatal infection

ORPHA:295

Fetal trimethadione syndrome

ORPHA:1913

Fetal valproate spectrum disorder

Fetal valproic acid syndrome · Valproic acid embryopathy

ORPHA:1906

Indomethacin embryofetopathy

Fetal indomethacin syndrome

ORPHA:1909

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

ORPHA:2663

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

ORPHA:1335

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

ORPHA:3103

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360

Twin to twin transfusion syndrome

Feto-fetal transfusion syndrome

ORPHA:95431