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"

10 matching diseasesClear search ×

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

ORPHA:93360

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

EXOC6B-SEMD-JL · SEMD-JL3

ORPHA:642085

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

SEMD-JL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1

ORPHA:642099

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

SEMDAD

ORPHA:168451

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

ORPHA:168454

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, Missouri type

SEMD type 2 · SEMD, Missouri type

ORPHA:93356

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

ORPHA:253