Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Short stature-valvular heart disease-characteristic facies syndrome
Autosomal dominant
Infancy, Neonatal
Short stature-webbed neck-heart disease syndrome
Unknown
Infancy, Neonatal
Short stature-wormian bones-dextrocardia syndrome
Infancy, Neonatal
Short tarsus-absence of lower eyelashes syndrome
Autosomal dominant
Infancy, Neonatal
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Shprintzen-Goldberg syndrome
Autosomal dominant, Multigenic/multifactorial, Not applicable
Antenatal, Infancy, Neonatal
Siegler-Brewer-Carey syndrome
Autosomal recessive
Infancy, Neonatal
Sillence syndrome
Autosomal dominant
Infancy, Neonatal
Simpson-Golabi-Behmel syndrome
X-linked recessive
Antenatal, Childhood, Infancy, Neonatal
Singleton-Merten dysplasia
Autosomal dominant
No data available
Sirenomelia
Not applicable
Antenatal, Neonatal
Skeletal dysplasia-epilepsy-short stature syndrome
Neonatal
Smith-Lemli-Opitz syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Smith-Magenis syndrome
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Spastic paraparesis-deafness syndrome
Childhood
Spastic paraplegia-facial-cutaneous lesions syndrome
Infancy
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Autosomal dominant
Antenatal, Neonatal
Spigelian hernia-cryptorchidism syndrome
Not applicable
Infancy, Neonatal
Spina bifida-hypospadias syndrome
Antenatal, Infancy, Neonatal
Spinal arteriovenous metameric syndrome
Not applicable
All ages
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Unknown
Infancy, Neonatal
Spinocerebellar degeneration-corneal dystrophy syndrome
Autosomal recessive
Childhood, Infancy
Splenic arteriovenous malformation
Not applicable
Splenogonadal fusion-limb defects-micrognathia syndrome
Antenatal, Neonatal