MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

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 scapuloperoneal muscular dystrophy

ORPHA:431272Заболевание
X-linked dominant

X-linked severe congenital neutropenia

ORPHA:86788Заболевание
X-linked recessive

X-linked sideroblastic anemia

ORPHA:75563Заболевание
X-linked recessive

X-linked sideroblastic anemia and spinocerebellar ataxia

ORPHA:2802Заболевание
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 4

ORPHA:85292Заболевание
X-linked recessive

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349Заболевание
X-linked recessive

XMEN

ORPHA:317476Заболевание
X-linked recessive

XYLT1-CDG

ORPHA:370930Заболевание
Autosomal recessive

Xanthoma disseminatum

ORPHA:158003Заболевание
Not applicable

Xeroderma pigmentosum

ORPHA:910Заболевание
Autosomal recessive

Xeroderma pigmentosum variant

ORPHA:90342Заболевание
Autosomal recessive

Xeroderma pigmentosum-Cockayne syndrome complex

ORPHA:220295Заболевание
Autosomal recessive

Xp21 deletion syndrome

ORPHA:261476Заболевание

Yellow fever

ORPHA:99829Заболевание

Yolk sac tumor

ORPHA:876Заболевание
Not applicable

Young adult-onset distal hereditary motor neuropathy

ORPHA:314485Заболевание
Autosomal recessive

Young syndrome

ORPHA:3471Заболевание
Unknown

Young-onset Parkinson disease

ORPHA:2828Заболевание
Autosomal recessive