Rare Disease Library

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

CHST3-related skeletal dysplasia

Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type

Dentin dysplasia type I

DD-I · DTDP1

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

NEK9-related lethal skeletal dysplasia

Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Platyspondylic dysplasia, Torrance type

PLSD-T · Platyspondylic dysplasia, Torrance-Luton type

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome