MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

X-linked non progressive cerebellar ataxia

ORPHA:314978Disease
X-linked recessive

X-linked non-syndromic intellectual disability

ORPHA:777Etio. sub.
X-linked recessive

X-linked osteoporosis with fractures

ORPHA:391330Disease
X-linked recessive

X-linked parkinsonism-spasticity syndrome

ORPHA:363654Disease
X-linked recessive

X-linked progressive cerebellar ataxia

ORPHA:1175Disease
X-linked recessive

X-linked recessive ocular albinism

ORPHA:54Disease
X-linked recessive

X-linked reticulate pigmentary disorder

ORPHA:85453Disease
X-linked dominant

X-linked retinoschisis

ORPHA:792Malform.
X-linked recessive

X-linked scapuloperoneal muscular dystrophy

ORPHA:431272Disease
X-linked dominant

X-linked severe congenital neutropenia

ORPHA:86788Disease
X-linked recessive

X-linked severe syndromic thoracic aortic aneurysm and dissection

ORPHA:622925Malform.

X-linked sideroblastic anemia

ORPHA:75563Disease
X-linked recessive

X-linked sideroblastic anemia and spinocerebellar ataxia

ORPHA:2802Disease
X-linked recessive

X-linked skeletal dysplasia-intellectual disability syndrome

ORPHA:1436Malform.
X-linked recessive

X-linked spastic paraplegia type 16

ORPHA:100997Disease
X-linked recessive

X-linked spastic paraplegia type 34

ORPHA:171607Disease
X-linked recessive

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175Disease
X-linked recessive

X-linked spinocerebellar ataxia type 3

ORPHA:85297Malform.
X-linked recessive

X-linked spinocerebellar ataxia type 4

ORPHA:85292Disease
X-linked recessive

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349Disease
X-linked recessive

X-linked thrombocytopenia with normal platelets

ORPHA:852Etio. sub.
X-linked recessive

XK aprosencephaly syndrome

ORPHA:3469Malform.
Autosomal recessive

XMEN

ORPHA:317476Disease
X-linked recessive

XY type gonadal dysgenesis-associated anomalies syndrome

ORPHA:1770Malform.
Autosomal recessive