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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Bilateral frontal polymicrogyria

ORPHA:208444Клин. подт.

Bilateral frontoparietal polymicrogyria

ORPHA:101070Клин. подт.
Autosomal recessive

Bilateral generalized polymicrogyria

ORPHA:208447Клин. подт.
Autosomal dominant

Bilateral microtia-deafness-cleft palate syndrome

ORPHA:140963Порок
Autosomal dominant, Autosomal recessive

Bilateral multicystic dysplastic kidney

ORPHA:97364Клин. подт.
Autosomal dominant

Bilateral parasagittal parieto-occipital polymicrogyria

ORPHA:208441Клин. подт.
Autosomal recessive

Bilateral perisylvian polymicrogyria

ORPHA:98889Клин. подт.
Autosomal recessive

Bilateral polymicrogyria

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

Bilateral striopallidodentate calcinosis

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

Bile acid CoA ligase deficiency and defective amidation

ORPHA:276066Заболевание
Unknown

Biliary atresia with splenic malformation syndrome

ORPHA:244283Порок
Multigenic/multifactorial

Biliary cystadenocarcinoma

ORPHA:424982Заболевание
Not applicable

Bilirubin encephalopathy

ORPHA:415286Клин. гр.
Not applicable

Biotin-thiamine-responsive basal ganglia disease

ORPHA:65284Заболевание
Autosomal recessive

Biotinidase deficiency

ORPHA:79241Заболевание
Autosomal recessive

Bipartite talus

ORPHA:364198Морф.
Not applicable

Birdshot chorioretinopathy

ORPHA:179Заболевание
Unknown

Birk-Barel syndrome

ORPHA:166108Заболевание
Autosomal dominant

Birt-Hogg-Dubé syndrome

ORPHA:122Порок
Autosomal dominant

Björnstad syndrome

ORPHA:123Заболевание
Autosomal dominant, Autosomal recessive

Blastic plasmacytoid dendritic cell neoplasm

ORPHA:86870Заболевание
Not applicable

Blau syndrome

ORPHA:90340Заболевание
Autosomal dominant, Not applicable

Bleeding diathesis due to a collagen receptor defect

ORPHA:73271Заболевание
Autosomal dominant, Autosomal recessive

Bleeding diathesis due to glycoprotein VI deficiency

ORPHA:98885Этиол. подт.
Autosomal recessive