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"

8 matching diseasesClear search ×

Multiple epiphyseal dysplasia

MED · EDM

ORPHA:251

Autosomal dominant Emery-Dreifuss muscular dystrophy

EDMD2

ORPHA:98853

Autosomal recessive Emery-Dreifuss muscular dystrophy

EDMD3

ORPHA:98855

Emery-Dreifuss muscular dystrophy

EDMD

ORPHA:261

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

ORPHA:93308

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

ORPHA:93307

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

ORPHA:93311

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

ORPHA:647676