MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

X-linked non progressive cerebellar ataxia

ORPHA:314978Kr.
X-linked recessive

X-linked non-syndromic intellectual disability

ORPHA:777Ätl. subt.
X-linked recessive

X-linked osteoporosis with fractures

ORPHA:391330Kr.
X-linked recessive

X-linked parkinsonism-spasticity syndrome

ORPHA:363654Kr.
X-linked recessive

X-linked progressive cerebellar ataxia

ORPHA:1175Kr.
X-linked recessive

X-linked recessive ocular albinism

ORPHA:54Kr.
X-linked recessive

X-linked reticulate pigmentary disorder

ORPHA:85453Kr.
X-linked dominant

X-linked retinoschisis

ORPHA:792Malf.
X-linked recessive

X-linked scapuloperoneal muscular dystrophy

ORPHA:431272Kr.
X-linked dominant

X-linked severe congenital neutropenia

ORPHA:86788Kr.
X-linked recessive

X-linked severe syndromic thoracic aortic aneurysm and dissection

ORPHA:622925Malf.

X-linked sideroblastic anemia

ORPHA:75563Kr.
X-linked recessive

X-linked sideroblastic anemia and spinocerebellar ataxia

ORPHA:2802Kr.
X-linked recessive

X-linked skeletal dysplasia-intellectual disability syndrome

ORPHA:1436Malf.
X-linked recessive

X-linked spastic paraplegia type 16

ORPHA:100997Kr.
X-linked recessive

X-linked spastic paraplegia type 34

ORPHA:171607Kr.
X-linked recessive

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175Kr.
X-linked recessive

X-linked spinocerebellar ataxia type 3

ORPHA:85297Malf.
X-linked recessive

X-linked spinocerebellar ataxia type 4

ORPHA:85292Kr.
X-linked recessive

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349Kr.
X-linked recessive

X-linked thrombocytopenia with normal platelets

ORPHA:852Ätl. subt.
X-linked recessive

XK aprosencephaly syndrome

ORPHA:3469Malf.
Autosomal recessive

XMEN

ORPHA:317476Kr.
X-linked recessive

XY type gonadal dysgenesis-associated anomalies syndrome

ORPHA:1770Malf.
Autosomal recessive