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"

9 matching diseasesClear search ×

Spondyloepimetaphyseal dysplasia, Irapa type

SEMD, Irapa type

ORPHA:93351

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

ORPHA:83330

Split cord malformation type I

Diastematomyelia · SCM type I

ORPHA:1671

Spondyloepimetaphyseal dysplasia, aggrecan type

SEMD, aggrecan type

ORPHA:171866

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

ORPHA:168454

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, Shohat type

SEMD, Shohat type

ORPHA:93352