Rare Disease Library

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

Atelosteogenesis type I

AO1 · AOI

Blomstrand lethal chondrodysplasia

BLC · BOCD

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

Chondrodysplasia punctata

CDP

Chondrodysplasia punctata, tibial-metacarpal type

Chondrodysplasia punctata, Toriello type

Toriello-Higgins-Miller syndrome

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

FGFR3-related chondrodysplasia

Lethal chondrodysplasia

Lethal recessive chondrodysplasia

Maroteaux-Stanescu-Cousin syndrome

Metaphyseal chondrodysplasia, Jansen type

Metaphyseal chondrodysplasia, Kaitila type

Metaphyseal chondrodysplasia, Rosenberg type

Rosenberg-Lohr syndrome

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

Metaphyseal chondrodysplasia, Spahr type

OBSOLETE: Chondrodysplasia punctata, Sheffield type

OBSOLETE: Lethal chondrodysplasia, Moerman type

OBSOLETE: Moerman-Vandenberghe-Fryns syndrome

OBSOLETE: Lethal chondrodysplasia, Seller type

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Rhizomelic chondrodysplasia punctata

RCDP

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 3

Rhizomelic chondrodysplasia punctata type 5

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

X-linked dominant chondrodysplasia punctata

CDPX2 · CDPXD

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome