MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

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 scapuloperoneal muscular dystrophy

ORPHA:431272Disease
X-linked dominant

X-linked severe congenital neutropenia

ORPHA:86788Disease
X-linked recessive

X-linked sideroblastic anemia

ORPHA:75563Disease
X-linked recessive

X-linked sideroblastic anemia and spinocerebellar ataxia

ORPHA:2802Disease
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 4

ORPHA:85292Disease
X-linked recessive

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349Disease
X-linked recessive

XMEN

ORPHA:317476Disease
X-linked recessive

XYLT1-CDG

ORPHA:370930Disease
Autosomal recessive

Xanthoma disseminatum

ORPHA:158003Disease
Not applicable

Xeroderma pigmentosum

ORPHA:910Disease
Autosomal recessive

Xeroderma pigmentosum variant

ORPHA:90342Disease
Autosomal recessive

Xeroderma pigmentosum-Cockayne syndrome complex

ORPHA:220295Disease
Autosomal recessive

Xp21 deletion syndrome

ORPHA:261476Disease

Yellow fever

ORPHA:99829Disease

Yolk sac tumor

ORPHA:876Disease
Not applicable

Young adult-onset distal hereditary motor neuropathy

ORPHA:314485Disease
Autosomal recessive

Young syndrome

ORPHA:3471Disease
Unknown

Young-onset Parkinson disease

ORPHA:2828Disease
Autosomal recessive