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"

12 matching diseasesClear search ×

Atelosteogenesis type I

AO1 · AOI

ORPHA:1190

Axial spondylometaphyseal dysplasia

ORPHA:168549

Cono-spondylar dysplasia

Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome

ORPHA:420794

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387

Spondylodysplastic dysplasia

ORPHA:93434

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

ORPHA:1855

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

ORPHA:253

Spondyloepiphyseal dysplasia congenita

Congenital spondyloepiphyseal dysplasia · SEDC

ORPHA:94068

Spondyloepiphyseal dysplasia tarda

ORPHA:93284

Spondylometaphyseal dysplasia

ORPHA:254

Spondylometaphyseal dysplasia, A4 type

ORPHA:168555

Spondylometaphyseal dysplasia, Golden type

X-linked spondylometaphyseal dysplasia

ORPHA:168544