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"

78 matching diseasesClear search ×

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 with combined immunodeficiency

Roifman-Melamed syndrome · SPENCDI

ORPHA:50816

Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

ORPHA:168552

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

Spondylometaphyseal dysplasia, Czarny-Ratajczak type

ORPHA:370019

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 intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

ORPHA:459070

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349