Rare Disease Library

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 multiple joint dislocations

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

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

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

CHST3-related skeletal dysplasia

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

Greenberg dysplasia

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

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

NEK9-related lethal skeletal dysplasia

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

OBSOLETE: ACAN-related skeletal dysplasia

OBSOLETE: Epimetaphyseal skeletal dysplasia

Platyspondylic dysplasia, Torrance type

PLSD-T · Platyspondylic dysplasia, Torrance-Luton type

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome