Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
X-linked non progressive cerebellar ataxia
X-linked recessive
Infancy, Neonatal
X-linked non-syndromic intellectual disability
X-linked recessive
Childhood, Infancy
X-linked osteoporosis with fractures
X-linked recessive
Childhood
X-linked parkinsonism-spasticity syndrome
X-linked recessive
Adolescent, Adult
X-linked progressive cerebellar ataxia
X-linked recessive
Childhood
X-linked recessive ocular albinism
X-linked recessive
Infancy, Neonatal
X-linked reticulate pigmentary disorder
X-linked dominant
Childhood
X-linked retinoschisis
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked scapuloperoneal muscular dystrophy
X-linked dominant
Adult
X-linked severe congenital neutropenia
X-linked recessive
Infancy, Neonatal
X-linked severe syndromic thoracic aortic aneurysm and dissection
Adolescent, Childhood, Infancy
X-linked sideroblastic anemia
X-linked recessive
All ages
X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked recessive
Childhood, Infancy
X-linked skeletal dysplasia-intellectual disability syndrome
X-linked recessive
Neonatal
X-linked spastic paraplegia type 16
X-linked recessive
Infancy
X-linked spastic paraplegia type 34
X-linked recessive
Adolescent, Adult, Childhood
X-linked spasticity-intellectual disability-epilepsy syndrome
X-linked recessive
Infancy, Neonatal
X-linked spinocerebellar ataxia type 3
X-linked recessive
Childhood
X-linked spinocerebellar ataxia type 4
X-linked recessive
Adult
X-linked spondyloepimetaphyseal dysplasia
X-linked recessive
X-linked thrombocytopenia with normal platelets
X-linked recessive
XK aprosencephaly syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
XMEN
X-linked recessive
Adolescent, Adult, Childhood
XY type gonadal dysgenesis-associated anomalies syndrome
Autosomal recessive
Neonatal