MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Brain arteriovenous malformation

ORPHA:46724Morph.
No data available

Brain dopamine-serotonin vesicular transport disease

ORPHA:352649Disease
Autosomal recessive

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

ORPHA:75389Malform.
Unknown

Brain-lung-thyroid syndrome

ORPHA:209905Disease
Autosomal dominant

Branchio-oculo-facial syndrome

ORPHA:1297Malform.
Autosomal dominant

Branchiogenic deafness syndrome

ORPHA:50815Malform.
Autosomal dominant

Branchiootic syndrome

ORPHA:52429Malform.
Autosomal dominant

Branchioskeletogenital syndrome

ORPHA:1299Malform.
Autosomal recessive, X-linked dominant

Brazilian hemorrhagic fever

ORPHA:319239Disease

Breast implant-associated anaplastic large cell lymphoma

ORPHA:667662Disease
Not applicable

Brittle cornea syndrome

ORPHA:90354Disease
Autosomal recessive

Brody myopathy

ORPHA:53347Disease
Autosomal dominant, Autosomal recessive

Bronchial neuroendocrine tumor

ORPHA:97287Disease
Not applicable

Bronchiolitis obliterans

ORPHA:1303Clin. grp.
Not applicable

Bronchogenic cyst

ORPHA:2357Morph.
Unknown

Bronchopulmonary dysplasia

ORPHA:70589Malform.
Not applicable

Brooke-Spiegler syndrome

ORPHA:79493Disease
Autosomal dominant

Brucellosis

ORPHA:1304Disease
Not applicable

Bruck syndrome

ORPHA:2771Malform.
Autosomal recessive

Brugada syndrome

ORPHA:130Disease
Autosomal dominant, Not applicable

Budd-Chiari syndrome

ORPHA:131Disease
Multigenic/multifactorial

Buerger disease

ORPHA:36258Disease
Not applicable

Bullous diffuse cutaneous mastocytosis

ORPHA:280785Clin. sub.
Not applicable

Bullous impetigo

ORPHA:36237Disease
Not applicable