MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Bilateral frontal polymicrogyria

ORPHA:208444Kl. subt.

Bilateral frontoparietal polymicrogyria

ORPHA:101070Kl. subt.
Autosomal recessive

Bilateral generalized polymicrogyria

ORPHA:208447Kl. subt.
Autosomal dominant

Bilateral microtia-deafness-cleft palate syndrome

ORPHA:140963Malf.
Autosomal dominant, Autosomal recessive

Bilateral multicystic dysplastic kidney

ORPHA:97364Kl. subt.
Autosomal dominant

Bilateral parasagittal parieto-occipital polymicrogyria

ORPHA:208441Kl. subt.
Autosomal recessive

Bilateral perisylvian polymicrogyria

ORPHA:98889Kl. subt.
Autosomal recessive

Bilateral polymicrogyria

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

Bilateral striopallidodentate calcinosis

ORPHA:1980Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Bile acid CoA ligase deficiency and defective amidation

ORPHA:276066Kr.
Unknown

Biliary atresia with splenic malformation syndrome

ORPHA:244283Malf.
Multigenic/multifactorial

Biliary cystadenocarcinoma

ORPHA:424982Kr.
Not applicable

Bilirubin encephalopathy

ORPHA:415286Kl. gruppe
Not applicable

Biotin-thiamine-responsive basal ganglia disease

ORPHA:65284Kr.
Autosomal recessive

Biotinidase deficiency

ORPHA:79241Kr.
Autosomal recessive

Bipartite talus

ORPHA:364198Morph.
Not applicable

Birdshot chorioretinopathy

ORPHA:179Kr.
Unknown

Birk-Barel syndrome

ORPHA:166108Kr.
Autosomal dominant

Birt-Hogg-Dubé syndrome

ORPHA:122Malf.
Autosomal dominant

Björnstad syndrome

ORPHA:123Kr.
Autosomal dominant, Autosomal recessive

Blastic plasmacytoid dendritic cell neoplasm

ORPHA:86870Kr.
Not applicable

Blau syndrome

ORPHA:90340Kr.
Autosomal dominant, Not applicable

Bleeding diathesis due to a collagen receptor defect

ORPHA:73271Kr.
Autosomal dominant, Autosomal recessive

Bleeding diathesis due to glycoprotein VI deficiency

ORPHA:98885Ätl. subt.
Autosomal recessive