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"

7 matching diseasesClear search ×

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

ORPHA:93308

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

ORPHA:369891

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

ORPHA:1415

Multiple epiphyseal dysplasia

MED · EDM

ORPHA:251

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