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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Bilateral frontal polymicrogyria

ORPHA:208444Клин. под.

Bilateral frontoparietal polymicrogyria

ORPHA:101070Клин. под.
Autosomal recessive

Bilateral generalized polymicrogyria

ORPHA:208447Клин. под.
Autosomal dominant

Bilateral microtia-deafness-cleft palate syndrome

ORPHA:140963Мальф.
Autosomal dominant, Autosomal recessive

Bilateral multicystic dysplastic kidney

ORPHA:97364Клин. под.
Autosomal dominant

Bilateral parasagittal parieto-occipital polymicrogyria

ORPHA:208441Клин. под.
Autosomal recessive

Bilateral perisylvian polymicrogyria

ORPHA:98889Клин. под.
Autosomal recessive

Bilateral polymicrogyria

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

Bilateral striopallidodentate calcinosis

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

Bile acid CoA ligase deficiency and defective amidation

ORPHA:276066Ауру
Unknown

Biliary atresia with splenic malformation syndrome

ORPHA:244283Мальф.
Multigenic/multifactorial

Biliary cystadenocarcinoma

ORPHA:424982Ауру
Not applicable

Bilirubin encephalopathy

ORPHA:415286Клин. топ
Not applicable

Biotin-thiamine-responsive basal ganglia disease

ORPHA:65284Ауру
Autosomal recessive

Biotinidase deficiency

ORPHA:79241Ауру
Autosomal recessive

Bipartite talus

ORPHA:364198Морф.
Not applicable

Birdshot chorioretinopathy

ORPHA:179Ауру
Unknown

Birk-Barel syndrome

ORPHA:166108Ауру
Autosomal dominant

Birt-Hogg-Dubé syndrome

ORPHA:122Мальф.
Autosomal dominant

Björnstad syndrome

ORPHA:123Ауру
Autosomal dominant, Autosomal recessive

Blastic plasmacytoid dendritic cell neoplasm

ORPHA:86870Ауру
Not applicable

Blau syndrome

ORPHA:90340Ауру
Autosomal dominant, Not applicable

Bleeding diathesis due to a collagen receptor defect

ORPHA:73271Ауру
Autosomal dominant, Autosomal recessive

Bleeding diathesis due to glycoprotein VI deficiency

ORPHA:98885Этио. под.
Autosomal recessive