Rare Disease Library

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Axial spondylometaphyseal dysplasia

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

CHST3-related skeletal dysplasia

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

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

EXOC6B-SEMD-JL · SEMD-JL3

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

Multiple epiphyseal dysplasia

MED · EDM

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-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

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: Spondyloepimetaphyseal dysplasia

OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity

OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature

Primary bone dysplasia with multiple joint dislocations

Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

SBDS-related severe neonatal spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia, Sedaghatian-like type · SBDS-related severe neonatal SMD

SPONASTRIME dysplasia

Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

SEMD-JL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

SEMDAD

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Spondyloepimetaphyseal dysplasia, aggrecan type

SEMD, aggrecan type

Spondyloepimetaphyseal dysplasia, Bieganski type

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

Spondyloepimetaphyseal dysplasia, Handigodu type

Spondyloepimetaphyseal dysplasia, Irapa type

SEMD, Irapa type

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

Spondyloepimetaphyseal dysplasia, matrilin-3 type

SEMD, MATN3-related · SEMD, matrilin-3 type

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Spondyloepimetaphyseal dysplasia, Pakistani type

Spondyloepimetaphyseal dysplasia, Shohat type

SEMD, Shohat type

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

Spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda, Kohn type

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

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