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

Avian influenza

ORPHA:454836Disease
Not applicable

Axial spondylometaphyseal dysplasia

ORPHA:168549Disease
Autosomal recessive

B-cell chronic lymphocytic leukemia

ORPHA:67038Disease
Multigenic/multifactorial, Not applicable

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

ORPHA:567502Disease
Autosomal dominant

B-cell prolymphocytic leukemia

ORPHA:86852Disease

B4GALT1-CDG

ORPHA:79332Disease
Autosomal recessive

BAG3-related myofibrillar myopathy

ORPHA:199340Disease
Autosomal dominant

BAP1-related tumor predisposition syndrome

ORPHA:289539Disease
Autosomal dominant

BENTA disease

ORPHA:464336Disease
Autosomal dominant

BVES-related limb-girdle muscular dystrophy

ORPHA:476084Disease
Autosomal recessive

Babesiosis

ORPHA:108Disease
Not applicable

Bacterial myositis

ORPHA:206994Disease

Bacterial toxic-shock syndrome

ORPHA:36234Disease
Not applicable

Bainbridge-Ropers syndrome

ORPHA:352577Disease
Autosomal dominant, Not applicable

Balantidiasis

ORPHA:1223Disease
Not applicable

Baló concentric sclerosis

ORPHA:228165Disease
Multigenic/multifactorial

Bardet-Biedl syndrome

ORPHA:110Disease
Autosomal recessive, Oligogenic

Barth syndrome

ORPHA:111Disease
X-linked recessive

Bartonella bacilliformis infection

ORPHA:64692Disease

Bartter syndrome

ORPHA:112Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Bathing suit ichthyosis

ORPHA:100976Disease
Autosomal recessive

Bazex syndrome

ORPHA:166113Disease
Not applicable

Bazex-Dupré-Christol syndrome

ORPHA:113Disease
X-linked dominant

Becker muscular dystrophy

ORPHA:98895Disease
X-linked recessive