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"

10 matching diseasesClear search ×

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

ORPHA:93311

Dysplasia epiphysealis hemimelica

Trevor disease

ORPHA:1822

Hereditary mucoepithelial dysplasia

Urban-Schosser-Spohn syndrome

ORPHA:1839

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

ORPHA:1824

Multiple epiphyseal dysplasia

MED · EDM

ORPHA:251

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 7

MED7 · EDM7

ORPHA:647676

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

ORPHA:166016

Renal dysplasia, bilateral

Kidney dysplasia, bilateral

ORPHA:93173