Rare Disease Library

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Axial spondylometaphyseal dysplasia

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

Dentin dysplasia-sclerotic bones syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

MGP-related spondyloepiphyseal dysplasia

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

Microspherophakia-metaphyseal dysplasia syndrome

Verloes-Van Maldergem-de Marneffe syndrome

MIR140-related spondyloepiphyseal dysplasia

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

Multiple epiphyseal dysplasia

MED · EDM

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

OBSOLETE: Spondyloepimetaphyseal dysplasia

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

Progressive pseudorheumatoid dysplasia

PPD · Progressive pseudorheumatoid arthropathy of childhood

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

Regressive spondylometaphyseal dysplasia

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

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

Spondylodysplastic dysplasia

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

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 congenita

Congenital spondyloepiphyseal dysplasia · SEDC