Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Distal 17p13.3 microdeletion syndrome
Not applicable
Antenatal, Infancy, Neonatal
Distal 22q11.2 microdeletion syndrome
Autosomal dominant
Antenatal, Neonatal
Distal 22q11.2 microduplication syndrome
Autosomal dominant
Antenatal, Childhood, Infancy, Neonatal
Distal 7q11.23 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
Distal 7q11.23 microduplication syndrome
Infancy, Neonatal
Distal Xq28 microduplication syndrome
X-linked recessive
Infancy, Neonatal
Distal anoctaminopathy
Autosomal recessive
Adolescent, Adult
Distal arthrogryposis type 1
Autosomal dominant
Antenatal, Neonatal
Distal arthrogryposis type 10
Autosomal dominant
Infancy, Neonatal
Distal arthrogryposis type 5D
Autosomal recessive
Neonatal
Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome
Autosomal recessive
Distal deletion 10p syndrome
Not applicable, Unknown
Childhood
Distal deletion 10q syndrome
Not applicable, Unknown
Antenatal, Neonatal
Distal deletion 12p syndrome
Infancy, Neonatal
Distal deletion 12q syndrome
Neonatal
Distal deletion 13q syndrome
Antenatal, Infancy, Neonatal
Distal deletion 14q syndrome
Neonatal
Distal deletion 15q syndrome
Antenatal, Neonatal
Distal deletion 17q syndrome
Not applicable, Unknown
Antenatal, Neonatal
Distal deletion 19p syndrome
Antenatal, Neonatal
Distal deletion 1q syndrome
Neonatal
Distal deletion 3p syndrome
Antenatal, Neonatal
Distal deletion 4q syndrome
Infancy, Neonatal
Distal deletion 6p syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal