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"

17 matching diseasesClear search ×

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

ORPHA:166016

Multiple epiphyseal dysplasia

MED · EDM

ORPHA:251

Multiple epiphyseal dysplasia and pseudoachondroplasia

ORPHA:93429

Multiple epiphyseal dysplasia due to collagen 9 anomaly

ORPHA:166002

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-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

ORPHA:166024

Multiple epiphyseal dysplasia-miniepiphyses syndrome

ORPHA:166032

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

ORPHA:166029

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

ORPHA:166011

Multiple metaphyseal dysplasia

ORPHA:93430

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

ORPHA:93313

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

ORPHA:93360

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS

ORPHA:1667