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"

21 matching diseasesClear search ×

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

ORPHA:647676

CHST3-related skeletal dysplasia

Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type

ORPHA:263463

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

ORPHA:168621

MGP-related spondyloepiphyseal dysplasia

MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome

ORPHA:664377

MIR140-related spondyloepiphyseal dysplasia

MIR140-related SED · Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses

ORPHA:623695

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-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 epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

ORPHA:166016

Multiple metaphyseal dysplasia

ORPHA:93430

OBSOLETE: Localized epiphyseal dysplasia

ORPHA:1823

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

ORPHA:93313

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS

ORPHA:1667