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"

5 matching diseasesClear search ×

Microvillus inclusion disease

Congenital microvillous atrophy · Congenital microvillus atrophy

ORPHA:2290

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital microgastria

ORPHA:199293

Congenital muscular dystrophy

CMD · MDC

ORPHA:97242

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

ORPHA:544602