Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Blount disease
Autosomal recessive
Childhood, Infancy
Blue cone monochromatism
X-linked recessive
Infancy
Blue diaper syndrome
Infancy, Neonatal
Blue rubber bleb nevus
Autosomal dominant, Not applicable
Childhood
Body integrity dysphoria
Adolescent, Childhood
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Autosomal recessive, Unknown
Adolescent, Childhood
Bohring-Opitz syndrome
Autosomal dominant
Antenatal, Neonatal
Bolivian hemorrhagic fever
All ages
Bone dysplasia, lethal Holmgren type
Autosomal recessive
Antenatal, Neonatal
Bone sarcoma
Bonnemann-Meinecke-Reich syndrome
Autosomal recessive
Infancy, Neonatal
Boomerang dysplasia
Not applicable
Antenatal, Neonatal
Borjeson-Forssman-Lehmann syndrome
X-linked recessive
Neonatal
Borna virus encephalitis
Adolescent, Adult, Elderly
Bosley-Salih-Alorainy syndrome
Autosomal recessive
Infancy, Neonatal
Bothnia retinal dystrophy
Autosomal recessive
Childhood
Botulism
Not applicable
All ages
Boutonneuse fever
Not applicable
All ages
Bowen-Conradi syndrome
Autosomal recessive
Antenatal, Neonatal
Brachydactylous dwarfism, Mseleni type
Unknown
Childhood
Brachydactyly type A1
Autosomal dominant
Infancy, Neonatal
Brachydactyly type A2
Autosomal dominant
Infancy, Neonatal
Brachydactyly type A4
Autosomal dominant
Infancy, Neonatal
Brachydactyly type A6
Autosomal dominant
Infancy, Neonatal