MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

AGR2-related infantile-onset inflammatory bowel disease

ORPHA:714484Заболевание
Autosomal recessive

AGel amyloidosis

ORPHA:85448Заболевание
Autosomal dominant

AH amyloidosis

ORPHA:442582Заболевание
Not applicable

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

ORPHA:412069Мальформация
Autosomal dominant

AICA-ribosiduria

ORPHA:250977Заболевание
Autosomal recessive

AIDS wasting syndrome

ORPHA:90081Особая клин. ситуация
Not applicable

AKT2-related familial partial lipodystrophy

ORPHA:79085Заболевание
Autosomal dominant

AL amyloidosis

ORPHA:85443Заболевание
Not applicable

ALDH18A1-related De Barsy syndrome

ORPHA:35664Этиол. подтип
Autosomal recessive, Not applicable

ALECT2 amyloidosis

ORPHA:439224Заболевание
Not applicable

ALG1-CDG

ORPHA:79327Заболевание
Autosomal recessive

ALG11-CDG

ORPHA:280071Заболевание
Autosomal recessive

ALG12-CDG

ORPHA:79324Заболевание
Autosomal recessive

ALG13-CDG

ORPHA:324422Заболевание
X-linked recessive

ALG2-CDG

ORPHA:79326Заболевание
Autosomal recessive

ALG3-CDG

ORPHA:79321Заболевание
Autosomal recessive

ALG6-CDG

ORPHA:79320Заболевание
Autosomal recessive

ALG8-CDG

ORPHA:79325Заболевание
Autosomal recessive

ALG9-CDG

ORPHA:79328Заболевание
Autosomal recessive

ALK-negative anaplastic large cell lymphoma

ORPHA:300903Гист. подтип
Not applicable

ALK-positive anaplastic large cell lymphoma

ORPHA:300895Гист. подтип
Not applicable

ALK-positive large B-cell lymphoma

ORPHA:364043Заболевание
Multigenic/multifactorial, Not applicable

ALPI-related inflammatory bowel disease

ORPHA:597887Заболевание
Autosomal recessive

ALys amyloidosis

ORPHA:93561Клин. подтип
Autosomal dominant