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"

44 matching diseasesClear search ×

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

ORPHA:175

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

ORPHA:2098

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Blomstrand lethal chondrodysplasia

BLC · BOCD

ORPHA:50945

Chondrodysplasia punctata, tibial-metacarpal type

ORPHA:79346

Chondrodysplasia punctata, Toriello type

Toriello-Higgins-Miller syndrome

ORPHA:79347

Craniometaphyseal dysplasia

ORPHA:1522

Lethal chondrodysplasia

ORPHA:93465

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

ORPHA:83629

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

ORPHA:1240

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

ORPHA:1040

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038

Metaphyseal chondrodysplasia, Rosenberg type

Rosenberg-Lohr syndrome

ORPHA:1837

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

ORPHA:174

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188

Multiple metaphyseal dysplasia

ORPHA:93430

OBSOLETE: Lethal chondrodysplasia, Moerman type

OBSOLETE: Moerman-Vandenberghe-Fryns syndrome

ORPHA:1420

OBSOLETE: Lethal chondrodysplasia, Seller type

ORPHA:1421

OBSOLETE: Unclassified metaphyseal chondrodysplasia

ORPHA:90345

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005

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, 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, 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

Spondylometaphyseal dysplasia

ORPHA:254

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

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317

X-linked dominant chondrodysplasia punctata

CDPX2 · CDPXD

ORPHA:35173