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"

200 matching diseasesClear search ×

Difference of sex development-intellectual disability syndrome

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

ORPHA:2983

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

ORPHA:141209

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

ORPHA:63273

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

ORPHA:2053

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

Invasive candidiasis

Systemic candidiasis · Disseminated candidiasis

ORPHA:636945