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"

46 matching diseasesClear search ×

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

ORPHA:1040

Anauxetic dysplasia

Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

ORPHA:93347

Autosomal recessive nail dysplasia

ORPHA:280654

Autosomal recessive otospondylomegaepiphyseal dysplasia

OSMED

ORPHA:1427

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

ORPHA:401979

Axial spondylometaphyseal dysplasia

ORPHA:168549

Camurati-Engelmann disease

Progressive diaphyseal dysplasia

ORPHA:1328

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

ORPHA:175

Craniodiaphyseal dysplasia

ORPHA:1513

Craniometaphyseal dysplasia

ORPHA:1522

Dappled diaphyseal dysplasia

ORPHA:99645

Frontometaphyseal dysplasia

ORPHA:1826

Gnathodiaphyseal dysplasia

GDD

ORPHA:53697

Metaphyseal acroscyphodysplasia

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

ORPHA:1240

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 without hypotrichosis

Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome

ORPHA:1838

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188

Metatropic dysplasia

Metatropic dwarfism

ORPHA:2635

Microspherophakia-metaphyseal dysplasia syndrome

Verloes-Van Maldergem-de Marneffe syndrome

ORPHA:2551

Multiple epiphyseal dysplasia

MED · EDM

ORPHA:251

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

ORPHA:93307

Multiple metaphyseal dysplasia

ORPHA:93430

OBSOLETE: Epimetaphyseal skeletal dysplasia

ORPHA:1819

OBSOLETE: Spondyloepimetaphyseal dysplasia

ORPHA:252

Osteosclerotic metaphyseal dysplasia

ORPHA:500548

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005

Regressive spondylometaphyseal dysplasia

ORPHA:448267

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387

Spondyloepimetaphyseal dysplasia, aggrecan type

SEMD, aggrecan type

ORPHA:171866

Spondyloepimetaphyseal dysplasia, Geneviève type

SEMD, Geneviève type · SEMDG

ORPHA:168454

Spondyloepimetaphyseal dysplasia, Irapa type

SEMD, Irapa type

ORPHA:93351

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

Spondyloepimetaphyseal dysplasia, Shohat type

SEMD, Shohat type

ORPHA:93352

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

ORPHA:253

Spondylometaphyseal dysplasia

ORPHA:254

Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, Sutcliffe type

ORPHA:93315

Spondylometaphyseal dysplasia, A4 type

ORPHA:168555

Spondylometaphyseal dysplasia, Golden type

X-linked spondylometaphyseal dysplasia

ORPHA:168544

Spondylometaphyseal dysplasia, Schmidt type

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

ORPHA:93316

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349