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"

50 matching diseasesClear search ×

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

ORPHA:1855

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Axial spondylometaphyseal dysplasia

ORPHA:168549

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

EXOC6B-SEMD-JL · SEMD-JL3

ORPHA:642085

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

ORPHA:83629

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

ORPHA:174

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501

OBSOLETE: Spondyloepimetaphyseal dysplasia

ORPHA:252

OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity

ORPHA:93359

OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature

ORPHA:642737

OBSOLETE: Unclassified spondylometaphyseal dysplasia

ORPHA:163678

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

ORPHA:750

Regressive spondylometaphyseal dysplasia

ORPHA:448267

SBDS-related severe neonatal spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia, Sedaghatian-like type · SBDS-related severe neonatal SMD

ORPHA:622934

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

ORPHA:1830

SPONASTRIME dysplasia

Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type

ORPHA:93357

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

ORPHA:93346

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

SEMD-JL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1

ORPHA:642099

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

ORPHA:93360

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

SEMDAD

ORPHA:168451

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

ORPHA:168443

Spondyloepimetaphyseal dysplasia, aggrecan type

SEMD, aggrecan type

ORPHA:171866

Spondyloepimetaphyseal dysplasia, Bieganski type

ORPHA:168448

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

ORPHA:168454

Spondyloepimetaphyseal dysplasia, Handigodu type

ORPHA:99642

Spondyloepimetaphyseal dysplasia, Irapa type

SEMD, Irapa type

ORPHA:93351

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, 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, PAPSS2 type

Spondyloepimetaphyseal dysplasia, Pakistani type

ORPHA:93282

Spondyloepimetaphyseal dysplasia, Shohat type

SEMD, Shohat type

ORPHA:93352

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

ORPHA:253

Spondyloepiphyseal dysplasia congenita

Congenital spondyloepiphyseal dysplasia · SEDC

ORPHA:94068

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

ORPHA:137678

Spondylometaphyseal dysplasia

ORPHA:254

Spondylometaphyseal dysplasia with combined immunodeficiency

Roifman-Melamed syndrome · SPENCDI

ORPHA:50816

Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

ORPHA:168552

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

SMD-CRD

ORPHA:85167

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

ORPHA:589435

Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, Sutcliffe type

ORPHA:93315

Spondylometaphyseal dysplasia, A4 type

ORPHA:168555

Spondylometaphyseal dysplasia, Czarny-Ratajczak type

ORPHA:370019

Spondylometaphyseal dysplasia, Golden type

X-linked spondylometaphyseal dysplasia

ORPHA:168544

Spondylometaphyseal dysplasia, Kozlowski type

ORPHA:93314

Spondylometaphyseal dysplasia, Schmidt type

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

ORPHA:93316