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"

51 matching diseasesClear search ×

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

ORPHA:750

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Axial spondylometaphyseal dysplasia

ORPHA:168549

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

ORPHA:83629

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

OBSOLETE: Spondyloepimetaphyseal dysplasia

ORPHA:252

Progressive pseudorheumatoid dysplasia

PPD · Progressive pseudorheumatoid arthropathy of childhood

ORPHA:1159

Regressive spondylometaphyseal dysplasia

ORPHA:448267

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

ORPHA:353298

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

ORPHA:1830

SPONASTRIME dysplasia

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

ORPHA:93357

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387

Spondylodysplastic dysplasia

ORPHA:93434

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

ORPHA:1855

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

SEMDAD

ORPHA:168451

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

ORPHA:168443

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 congenita

Congenital spondyloepiphyseal dysplasia · SEDC

ORPHA:94068

Spondyloepiphyseal dysplasia tarda

ORPHA:93284

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-cone-rod dystrophy syndrome

SMD-CRD

ORPHA:85167

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

ORPHA:589435

Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, Sutcliffe type

ORPHA:93315

Spondylometaphyseal dysplasia, A4 type

ORPHA:168555