MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

X-linked non progressive cerebellar ataxia

ORPHA:314978Заболевание
X-linked recessive

X-linked non-syndromic intellectual disability

ORPHA:777Этиол. подт.
X-linked recessive

X-linked osteoporosis with fractures

ORPHA:391330Заболевание
X-linked recessive

X-linked parkinsonism-spasticity syndrome

ORPHA:363654Заболевание
X-linked recessive

X-linked progressive cerebellar ataxia

ORPHA:1175Заболевание
X-linked recessive

X-linked recessive ocular albinism

ORPHA:54Заболевание
X-linked recessive

X-linked reticulate pigmentary disorder

ORPHA:85453Заболевание
X-linked dominant

X-linked retinoschisis

ORPHA:792Порок
X-linked recessive

X-linked scapuloperoneal muscular dystrophy

ORPHA:431272Заболевание
X-linked dominant

X-linked severe congenital neutropenia

ORPHA:86788Заболевание
X-linked recessive

X-linked severe syndromic thoracic aortic aneurysm and dissection

ORPHA:622925Порок

X-linked sideroblastic anemia

ORPHA:75563Заболевание
X-linked recessive

X-linked sideroblastic anemia and spinocerebellar ataxia

ORPHA:2802Заболевание
X-linked recessive

X-linked skeletal dysplasia-intellectual disability syndrome

ORPHA:1436Порок
X-linked recessive

X-linked spastic paraplegia type 16

ORPHA:100997Заболевание
X-linked recessive

X-linked spastic paraplegia type 34

ORPHA:171607Заболевание
X-linked recessive

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175Заболевание
X-linked recessive

X-linked spinocerebellar ataxia type 3

ORPHA:85297Порок
X-linked recessive

X-linked spinocerebellar ataxia type 4

ORPHA:85292Заболевание
X-linked recessive

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349Заболевание
X-linked recessive

X-linked thrombocytopenia with normal platelets

ORPHA:852Этиол. подт.
X-linked recessive

XK aprosencephaly syndrome

ORPHA:3469Порок
Autosomal recessive

XMEN

ORPHA:317476Заболевание
X-linked recessive

XY type gonadal dysgenesis-associated anomalies syndrome

ORPHA:1770Порок
Autosomal recessive