MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Bilateral frontal polymicrogyria

ORPHA:208444Clin. sub.

Bilateral frontoparietal polymicrogyria

ORPHA:101070Clin. sub.
Autosomal recessive

Bilateral generalized polymicrogyria

ORPHA:208447Clin. sub.
Autosomal dominant

Bilateral microtia-deafness-cleft palate syndrome

ORPHA:140963Malform.
Autosomal dominant, Autosomal recessive

Bilateral multicystic dysplastic kidney

ORPHA:97364Clin. sub.
Autosomal dominant

Bilateral parasagittal parieto-occipital polymicrogyria

ORPHA:208441Clin. sub.
Autosomal recessive

Bilateral perisylvian polymicrogyria

ORPHA:98889Clin. sub.
Autosomal recessive

Bilateral polymicrogyria

ORPHA:268940Morph.
Autosomal recessive, X-linked dominant

Bilateral striopallidodentate calcinosis

ORPHA:1980Disease
Autosomal dominant, Autosomal recessive, Not applicable

Bile acid CoA ligase deficiency and defective amidation

ORPHA:276066Disease
Unknown

Biliary atresia with splenic malformation syndrome

ORPHA:244283Malform.
Multigenic/multifactorial

Biliary cystadenocarcinoma

ORPHA:424982Disease
Not applicable

Bilirubin encephalopathy

ORPHA:415286Clin. grp.
Not applicable

Biotin-thiamine-responsive basal ganglia disease

ORPHA:65284Disease
Autosomal recessive

Biotinidase deficiency

ORPHA:79241Disease
Autosomal recessive

Bipartite talus

ORPHA:364198Morph.
Not applicable

Birdshot chorioretinopathy

ORPHA:179Disease
Unknown

Birk-Barel syndrome

ORPHA:166108Disease
Autosomal dominant

Birt-Hogg-Dubé syndrome

ORPHA:122Malform.
Autosomal dominant

Björnstad syndrome

ORPHA:123Disease
Autosomal dominant, Autosomal recessive

Blastic plasmacytoid dendritic cell neoplasm

ORPHA:86870Disease
Not applicable

Blau syndrome

ORPHA:90340Disease
Autosomal dominant, Not applicable

Bleeding diathesis due to a collagen receptor defect

ORPHA:73271Disease
Autosomal dominant, Autosomal recessive

Bleeding diathesis due to glycoprotein VI deficiency

ORPHA:98885Etio. sub.
Autosomal recessive