Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
Spondyloepimetaphyseal dysplasia, Missouri type
Autosomal dominant
Childhood, Infancy
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Autosomal recessive
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia, Shohat type
Autosomal recessive
Antenatal, Infancy, Neonatal
Spondyloepimetaphyseal dysplasia, aggrecan type
Autosomal recessive
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Autosomal recessive
Antenatal, Neonatal
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Infancy
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Autosomal recessive
Infancy, Neonatal
Spondyloepiphyseal dysplasia congenita
Autosomal dominant
Antenatal, Neonatal
Spondyloepiphyseal dysplasia tarda
Autosomal dominant, Autosomal recessive, X-linked recessive
Adolescent, Adult, Childhood
Spondyloepiphyseal dysplasia tarda, Kohn type
Autosomal recessive
Childhood
Spondyloepiphyseal dysplasia with metatarsal shortening
Autosomal dominant
Adolescent, Childhood
Spondyloepiphyseal dysplasia, Kimberley type
Autosomal dominant
Infancy, Neonatal
Spondyloepiphyseal dysplasia, Reardon type
Autosomal dominant
Infancy, Neonatal
Spondyloepiphyseal dysplasia, Stanescu type
Autosomal dominant
Childhood
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Unknown
Infancy, Neonatal
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Spondylometaphyseal dysplasia, 'corner fracture' type
Autosomal dominant
Childhood, Infancy, Neonatal
Spondylometaphyseal dysplasia, A4 type
Autosomal recessive
Infancy
Spondylometaphyseal dysplasia, Golden type
X-linked recessive
No data available
Spondylometaphyseal dysplasia, Kozlowski type
Autosomal dominant
Infancy
Spondylometaphyseal dysplasia, Schmidt type
Autosomal dominant
Adolescent, Childhood, Infancy
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Autosomal recessive
Infancy
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Autosomal recessive
No data available