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"

11 matching diseasesClear search ×

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

ORPHA:641829

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

ORPHA:162

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

ORPHA:91413

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital myasthenic syndrome

CMS

ORPHA:590

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

ORPHA:290

Congenital short bowel syndrome

ORPHA:2301

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

ORPHA:291

Congenital vascular bone syndrome

ORPHA:235832

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

ORPHA:3197