Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7q31 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
8p inverted duplication/deletion syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
8p11.2 deletion syndrome
Not applicable, Unknown
Infancy, Neonatal
8p23.1 duplication syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
8p23.1 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
8q12 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
8q21.11 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
8q22.1 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
8q24.3 microdeletion syndrome
Not applicable
Antenatal, Neonatal
9p13 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
9q21.13 microdeletion syndrome
Not applicable
Childhood, Infancy
9q31.1q31.3 microdeletion syndrome
Unknown
Neonatal
9q33.3q34.11 microdeletion syndrome
Not applicable
Childhood, Infancy
ADULT syndrome
Autosomal dominant
Antenatal, Neonatal
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Autosomal dominant
Neonatal
AREDYLD syndrome
Autosomal recessive
Neonatal
Aarskog-Scott syndrome
Autosomal dominant, Autosomal recessive, X-linked recessive
Childhood
Aase-Smith syndrome type 1
Autosomal dominant
Antenatal, Neonatal
Ablepharon macrostomia syndrome
Autosomal dominant
Antenatal, Neonatal
Abruzzo-Erickson syndrome
X-linked recessive
Antenatal
Absence deformity of leg-cataract syndrome
Antenatal
Absent radius-anogenital anomalies syndrome
Antenatal, Neonatal
Absent thumb-short stature-immunodeficiency syndrome
Unknown
Infancy, Neonatal
Absent tibia-polydactyly-arachnoid cyst syndrome
Unknown
Infancy, Neonatal