Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Synaptic congenital myasthenic syndrome
Autosomal recessive
Infancy, Neonatal
Syndactyly type 1
Autosomal dominant
Antenatal, Infancy, Neonatal
Syndactyly type 2
Autosomal dominant
Infancy, Neonatal
Syndactyly type 3
Autosomal dominant
Infancy, Neonatal
Syndactyly type 4
Autosomal dominant
Infancy, Neonatal
Syndactyly type 5
Autosomal dominant
Infancy, Neonatal
Syndactyly type 8
Autosomal dominant, X-linked recessive
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Autosomal recessive
Infancy, Neonatal
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Unknown
Neonatal
Syndactyly-polydactyly-ear lobe syndrome
Neonatal
Syndactyly-telecanthus-anogenital and renal malformations syndrome
X-linked dominant
Infancy, Neonatal
Syndrome with woolly hair
Neonatal
Syndromic X-linked intellectual disability 7
X-linked recessive
No data available
Syndromic autoimmune enteropathy due to LRBA deficiency
Autosomal recessive
Childhood, Infancy
Syndromic congenital sodium diarrhea
Autosomal recessive
Antenatal, Neonatal
Syndromic hypothyroidism
Syndromic microphthalmia type 5
Autosomal dominant
Antenatal, Neonatal
Syndromic multisystem autoimmune disease due to Itch deficiency
Autosomal recessive
Infancy, Neonatal
Syndromic orbital border hypoplasia
Neonatal
Syndromic recessive X-linked ichthyosis
X-linked recessive
Childhood
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Autosomal recessive
Neonatal
Syngnathia-cleft palate syndrome
Antenatal, Neonatal
Synovial sarcoma
Not applicable
All ages
Synpolydactyly type 1
Autosomal dominant