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"

11 matching diseasesClear search ×

Multiple endocrine neoplasia type 2B

MEN2B · Multiple endocrine neoplasia type 3

ORPHA:247709

Multiple endocrine neoplasia

MEN

ORPHA:276161

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

ORPHA:652

Multiple endocrine neoplasia type 2

MEN2

ORPHA:653

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

ORPHA:247698

Multiple endocrine neoplasia type 4

MEN4

ORPHA:276152

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

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

ORPHA:166016