Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Bilateral frontal polymicrogyria
Antenatal, Infancy, Neonatal
Bilateral frontoparietal polymicrogyria
Autosomal recessive
Antenatal, Infancy, Neonatal
Bilateral generalized polymicrogyria
Autosomal dominant
Antenatal, Infancy, Neonatal
Bilateral microtia-deafness-cleft palate syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Bilateral multicystic dysplastic kidney
Autosomal dominant
Antenatal, Neonatal
Bilateral parasagittal parieto-occipital polymicrogyria
Autosomal recessive
Antenatal, Infancy, Neonatal
Bilateral perisylvian polymicrogyria
Autosomal recessive
Antenatal, Infancy, Neonatal
Bilateral polymicrogyria
Autosomal recessive, X-linked dominant
Infancy, Neonatal
Bilateral striopallidodentate calcinosis
Autosomal dominant, Autosomal recessive, Not applicable
Adult
Bile acid CoA ligase deficiency and defective amidation
Unknown
Infancy, Neonatal
Biliary atresia with splenic malformation syndrome
Multigenic/multifactorial
Infancy, Neonatal
Biliary cystadenocarcinoma
Not applicable
Adult
Bilirubin encephalopathy
Not applicable
Infancy, Neonatal
Biotin-thiamine-responsive basal ganglia disease
Autosomal recessive
Adult, Childhood, Infancy
Biotinidase deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Bipartite talus
Not applicable
Adolescent, Adult
Birdshot chorioretinopathy
Unknown
Adult, Elderly
Birk-Barel syndrome
Autosomal dominant
Infancy
Birt-Hogg-Dubé syndrome
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Björnstad syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Blastic plasmacytoid dendritic cell neoplasm
Not applicable
Elderly
Blau syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
Bleeding diathesis due to a collagen receptor defect
Autosomal dominant, Autosomal recessive
All ages
Bleeding diathesis due to glycoprotein VI deficiency
Autosomal recessive