Rare Disease Library

Camurati-Engelmann disease

Progressive diaphyseal dysplasia

Craniodiaphyseal dysplasia

Craniometaphyseal dysplasia

Dappled diaphyseal dysplasia

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Frontometaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Gnathodiaphyseal dysplasia

GDD

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia

Multiple epiphyseal dysplasia

MED · EDM

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

Multiple metaphyseal dysplasia

North Carolina macular dystrophy

CAPE dystrophy · CAPED

Primary progressive aphasia

Mesulam syndrome · PPA

Progressive cone dystrophy

Cone dystrophy

Progressive osseous heteroplasia

Familial ectopic ossification · POH

Progressive pseudorheumatoid dysplasia

PPD · Progressive pseudorheumatoid arthropathy of childhood

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Regressive spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia