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"

16 matching diseasesClear search ×

MIR140-related spondyloepiphyseal dysplasia

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

ORPHA:623695

CHST3-related skeletal dysplasia

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

ORPHA:263463

MGP-related spondyloepiphyseal dysplasia

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

ORPHA:664377

OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature

ORPHA:642737

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

ORPHA:93360

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature

ORPHA:370015

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 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, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

ORPHA:163673

Spondyloepiphyseal dysplasia, Omani type

ORPHA:93280

Spondyloepiphyseal dysplasia, Reardon type

ORPHA:163662

Spondyloepiphyseal dysplasia, Stanescu type

SED, Stanescu type

ORPHA:459051

Spondylometaphyseal dysplasia, Schmidt type

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

ORPHA:93316