Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Autosomal dominant
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Autosomal dominant
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia, Geneviève type
Autosomal recessive
Infancy
Spondyloepimetaphyseal dysplasia, Handigodu type
Adolescent, Adult, Childhood
Spondyloepimetaphyseal dysplasia, Irapa type
Autosomal recessive
Childhood
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Autosomal dominant
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia, Maroteaux type
Not applicable
Infancy, Neonatal
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 and spondyloepimetaphyseal dysplasia
All ages
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, MacDermot type
Autosomal dominant
Infancy, Neonatal
Spondyloepiphyseal dysplasia, Reardon type
Autosomal dominant
Infancy, Neonatal