Rare Disease Library

Primary bone dysplasia with multiple joint dislocations

Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

CHST3-related skeletal dysplasia

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

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

Primary bone dysplasia with decreased bone density

Primary osteodysplasia with decreased bone density · Primary skeletal dysplasia with decreased bone density

Primary bone dysplasia with defective bone mineralization

Primary osteodysplasia with defective bone mineralization · Primary skeletal dysplasia with defective bone mineralization

Primary bone dysplasia with disorganized development of skeletal components

Primary osteodysplasia with disorganized development of skeletal components · Primary skeletal dysplasia with disorganized development of skeletal components

Primary bone dysplasia with increased bone density

Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments · Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2