Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Autosomal dominant
Bleeding diathesis due to thromboxane synthesis deficiency
Bleeding disorder due to CalDAG-GEFI deficiency
Autosomal recessive
Infancy
Bleeding disorder due to P2Y12 defect
Autosomal recessive
Childhood
Bleeding disorder in hemophilia A carriers
X-linked recessive
All ages
Bleeding disorder in hemophilia B carriers
X-linked recessive
Blepharo-cheilo-odontic syndrome
Autosomal dominant
Neonatal
Blepharonasofacial malformation syndrome
Autosomal dominant, X-linked dominant
Childhood
Blepharophimosis-intellectual disability syndrome
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome, MKB type
X-linked recessive
Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome, Ohdo type
Not applicable
Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome, SBBYS type
Autosomal dominant
Antenatal, Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome, Verloes type
Unknown
Antenatal, Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Antenatal, Neonatal
Blepharophimosis-ptosis-epicanthus inversus syndrome
Autosomal dominant, Not applicable
Antenatal
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Antenatal
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Autosomal recessive
Antenatal
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Autosomal dominant
Antenatal
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Autosomal recessive
Neonatal
Blepharoptosis-myopia-ectopia lentis syndrome
Autosomal dominant
Childhood
Blepharospasm-oromandibular dystonia syndrome
Adult, Elderly
Blindness-scoliosis-arachnodactyly syndrome
Autosomal dominant
Adolescent, Childhood
Blomstrand lethal chondrodysplasia
Autosomal recessive
Antenatal, Neonatal
Bloom syndrome
Autosomal recessive
Antenatal, Neonatal