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"

5 matching diseasesClear search ×

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature

ORPHA:370015

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

ORPHA:93360

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

SEMDAD

ORPHA:168451

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

ORPHA:168454

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

ORPHA:263482