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"

6 matching diseasesClear search ×

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

ORPHA:238569

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

ORPHA:399103

Combined immunodeficiency-multiple intestinal atresia

CID-MIA/early-onset IBD

ORPHA:436252

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

ORPHA:84132

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

ORPHA:256

KLHL9-related early-onset distal myopathy

ORPHA:399081