Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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 scapuloperoneal muscular dystrophy
X-linked dominant
Adult
X-linked severe congenital neutropenia
X-linked recessive
Infancy, Neonatal
X-linked sideroblastic anemia
X-linked recessive
All ages
X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked recessive
Childhood, Infancy
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 4
X-linked recessive
Adult
X-linked spondyloepimetaphyseal dysplasia
X-linked recessive
XMEN
X-linked recessive
Adolescent, Adult, Childhood
XYLT1-CDG
Autosomal recessive
Infancy, Neonatal
Xanthoma disseminatum
Not applicable
Adolescent, Adult, Childhood
Xeroderma pigmentosum
Autosomal recessive
All ages
Xeroderma pigmentosum variant
Autosomal recessive
Adolescent, Adult
Xeroderma pigmentosum-Cockayne syndrome complex
Autosomal recessive
Infancy, Neonatal
Xp21 deletion syndrome
Infancy, Neonatal
Yellow fever
All ages
Yolk sac tumor
Not applicable
Adolescent, Adult
Young adult-onset distal hereditary motor neuropathy
Autosomal recessive
Adult
Young syndrome
Unknown
Adult
Young-onset Parkinson disease
Autosomal recessive
Adult