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"

83 matching diseasesClear search ×

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

ORPHA:93346

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

SEMD-JL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1

ORPHA:642099

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

ORPHA:93360

Spondyloepimetaphyseal dysplasia, aggrecan type

SEMD, aggrecan type

ORPHA:171866

Spondyloepimetaphyseal dysplasia, Bieganski type

ORPHA:168448

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

ORPHA:168454

Spondyloepimetaphyseal dysplasia, Handigodu type

ORPHA:99642

Spondyloepimetaphyseal dysplasia, Irapa type

SEMD, Irapa type

ORPHA:93351

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature

ORPHA:370015

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

ORPHA:263482

Spondyloepimetaphyseal dysplasia, matrilin-3 type

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

ORPHA:156728

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

ORPHA:93356

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Spondyloepimetaphyseal dysplasia, Pakistani type

ORPHA:93282

Spondyloepimetaphyseal dysplasia, Shohat type

SEMD, Shohat type

ORPHA:93352

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

ORPHA:253

Spondyloepiphyseal dysplasia tarda, Kohn type

ORPHA:163665

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

ORPHA:137678

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654

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

Spondyloepiphyseal dysplasia, Nishimura type

ORPHA:163649

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

ORPHA:163673

Spondyloepiphyseal dysplasia, Kimberley type

ORPHA:93283

Spondyloepiphyseal dysplasia, MacDermot type

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

ORPHA:163668

Spondyloepiphyseal dysplasia, Omani type

ORPHA:93280

Spondyloepiphyseal dysplasia, Reardon type

ORPHA:163662

Spondyloepiphyseal dysplasia, Stanescu type

SED, Stanescu type

ORPHA:459051

Spondylometaphyseal dysplasia

ORPHA:254

Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, Sutcliffe type

ORPHA:93315

Spondylometaphyseal dysplasia, A4 type

ORPHA:168555

Spondylometaphyseal dysplasia, Czarny-Ratajczak type

ORPHA:370019

Spondylometaphyseal dysplasia, Golden type

X-linked spondylometaphyseal dysplasia

ORPHA:168544

Spondylometaphyseal dysplasia, Kozlowski type

ORPHA:93314

Spondylometaphyseal dysplasia, Schmidt type

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

ORPHA:93316

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349