Albright hereditary osteodystrophy
Albright hereditary osteodystrophy

Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2C

Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant congenital benign spinal muscular atrophy

Brachyolmia type 3
Brachyolmia type 3

Endosteal hyperosteosis,worth type
Endosteal hyperosteosis,worth type

Familial ectopic ossification
Familial ectopic ossification

Hereditary sensory and autonomic neuropathy, type 4
Hereditary sensory and autonomic neuropathy, type 4

Metatropic dysplasia
Metatropic dysplasia

Preaxial polydactyly
Preaxial polydactyly

Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy

Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type

Trichorhinophalangeal syndromes type 1 and 3
Trichorhinophalangeal syndromes type 1 and 3

가(성)부갑상선기능저하증(1A형)
Pseudohypoparathyroidism type 1A

가(성)부갑상선기능저하증(1C형)
Pseudohypoparathyroidism type 1C

다발성 골단이형성증 (제4형)
Multiple epiphyseal dysplasia type 4

진행성 골화성 섬유성 골이형성증
Fibrodysplasia ossificans progressiva