Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Split hand-split foot-deafness syndrome
Autosomal recessive
Infancy, Neonatal
Split-foot malformation-mesoaxial polydactyly syndrome
Autosomal recessive
Neonatal
Spondylo-ocular syndrome
Autosomal recessive
Infancy, Neonatal
Spondylocamptodactyly syndrome
Neonatal
Spondylocarpotarsal synostosis
Autosomal recessive
Childhood, Infancy
Spondyloenchondrodysplasia
Autosomal recessive
Childhood
Spondyloepiphyseal dysplasia, MacDermot type
Autosomal dominant
Infancy, Neonatal
Spondylometaphyseal dysplasia, Sedaghatian type
Autosomal recessive
Antenatal, Neonatal
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Autosomal recessive
Neonatal
Sporadic fetal brain disruption sequence
Not applicable
Antenatal
Stapes ankylosis with broad thumbs and toes
Autosomal dominant
Infancy, Neonatal
Steatocystoma multiplex-natal teeth syndrome
Autosomal dominant
Infancy, Neonatal
Stimmler syndrome
Autosomal recessive
Infancy, Neonatal
Stromme syndrome
Autosomal recessive
Antenatal
Structural heart defects-renal anomalies syndrome
Autosomal recessive
Antenatal, Neonatal
Sturge-Weber syndrome
Not applicable
Antenatal, Neonatal
Stüve-Wiedemann syndrome
Autosomal recessive
Antenatal, Neonatal
Subaortic stenosis-short stature syndrome
Neonatal
Sudden infant death-dysgenesis of the testes syndrome
Autosomal recessive
Infancy, Neonatal
Supernumerary nostril
Not applicable
Antenatal, Neonatal
Symbrachydactyly of hands and feet
Antenatal, Neonatal
Symphalangism with multiple anomalies of hands and feet
Infancy, Neonatal
Symptomatic form of Coffin-Lowry syndrome in female carriers
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Autosomal recessive
Infancy, Neonatal