Rare Disease Library

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Dysplasia epiphysealis hemimelica

Trevor disease

Dysplasia of head of femur, Meyer type

Meyer dysplasia · DECF

Multiple epiphyseal dysplasia

MED · EDM

Multiple epiphyseal dysplasia and pseudoachondroplasia

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

Multiple epiphyseal dysplasia-miniepiphyses syndrome

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

Multiple epiphyseal dysplasia, Beighton type

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

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

Multiple metaphyseal dysplasia

OBSOLETE: Localized epiphyseal dysplasia

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

Spondyloepiphyseal dysplasia tarda, Kohn type

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Spondyloepiphyseal dysplasia, Nishimura type

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, MacDermot type

Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome

Spondyloepiphyseal dysplasia, Omani type

Spondyloepiphyseal dysplasia, Reardon type

Spondyloepiphyseal dysplasia, Stanescu type

SED, Stanescu type

Spondylometaphyseal dysplasia, A4 type

Spondylometaphyseal dysplasia, Schmidt type

Spondylometaphyseal dysplasia with severe genu valgum · Spondylometaphyseal dysplasia, Algerian type

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS