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"

9 matching diseasesClear search ×

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

ORPHA:1040

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

ORPHA:2899

Carpotarsal osteochondromatosis

Maroteaux-Le Merrer-Bensahel syndrome

ORPHA:2767

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

ORPHA:2983

Duane anomaly-myopathy-scoliosis syndrome

Verloes-Deprez syndrome

ORPHA:50817

Lethal recessive chondrodysplasia

Maroteaux-Stanescu-Cousin syndrome

ORPHA:1423

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

ORPHA:2496

Microspherophakia-metaphyseal dysplasia syndrome

Verloes-Van Maldergem-de Marneffe syndrome

ORPHA:2551