Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
AGR2-related infantile-onset inflammatory bowel disease
Autosomal recessive
AGel amyloidosis
Autosomal dominant
Adult
AH amyloidosis
Not applicable
Neonatal
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Autosomal dominant
Neonatal
AICA-ribosiduria
Autosomal recessive
Antenatal, Infancy, Neonatal
AIDS wasting syndrome
Not applicable
All ages
AKT2-related familial partial lipodystrophy
Autosomal dominant
Adult
AL amyloidosis
Not applicable
Adult
ALDH18A1-related De Barsy syndrome
Autosomal recessive, Not applicable
Infancy, Neonatal
ALECT2 amyloidosis
Not applicable
ALG1-CDG
Autosomal recessive
Infancy, Neonatal
ALG11-CDG
Autosomal recessive
Infancy, Neonatal
ALG12-CDG
Autosomal recessive
Infancy, Neonatal
ALG13-CDG
X-linked recessive
Infancy, Neonatal
ALG2-CDG
Autosomal recessive
Infancy, Neonatal
ALG3-CDG
Autosomal recessive
Infancy, Neonatal
ALG6-CDG
Autosomal recessive
Infancy, Neonatal
ALG8-CDG
Autosomal recessive
Antenatal, Infancy, Neonatal
ALG9-CDG
Autosomal recessive
Antenatal, Infancy, Neonatal
ALK-negative anaplastic large cell lymphoma
Not applicable
Adult
ALK-positive anaplastic large cell lymphoma
Not applicable
Adolescent, Adult, Childhood
ALK-positive large B-cell lymphoma
Multigenic/multifactorial, Not applicable
ALPI-related inflammatory bowel disease
Autosomal recessive
Adolescent, Infancy
ALys amyloidosis
Autosomal dominant