MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Distal 17p13.3 microdeletion syndrome

ORPHA:261257Мальформация
Not applicable

Distal 22q11.2 microdeletion syndrome

ORPHA:261330Мальформация
Autosomal dominant

Distal 22q11.2 microduplication syndrome

ORPHA:261337Мальформация
Autosomal dominant

Distal 7q11.23 microdeletion syndrome

ORPHA:254351Мальформация
Autosomal dominant, Not applicable

Distal 7q11.23 microduplication syndrome

ORPHA:261102Мальформация

Distal Xq28 microduplication syndrome

ORPHA:293939Мальформация
X-linked recessive

Distal anoctaminopathy

ORPHA:399096Заболевание
Autosomal recessive

Distal arthrogryposis type 1

ORPHA:1146Мальформация
Autosomal dominant

Distal arthrogryposis type 10

ORPHA:251515Мальформация
Autosomal dominant

Distal arthrogryposis type 5D

ORPHA:329457Заболевание
Autosomal recessive

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

ORPHA:707937Мальформация
Autosomal recessive

Distal deletion 10p syndrome

ORPHA:1580Клин. группа
Not applicable, Unknown

Distal deletion 10q syndrome

ORPHA:96148Мальформация
Not applicable, Unknown

Distal deletion 12p syndrome

ORPHA:280325Мальформация

Distal deletion 12q syndrome

ORPHA:96149Мальформация

Distal deletion 13q syndrome

ORPHA:1590Мальформация

Distal deletion 14q syndrome

ORPHA:96150Мальформация

Distal deletion 15q syndrome

ORPHA:1596Мальформация

Distal deletion 17q syndrome

ORPHA:1597Мальформация
Not applicable, Unknown

Distal deletion 19p syndrome

ORPHA:96129Мальформация

Distal deletion 1q syndrome

ORPHA:36367Мальформация

Distal deletion 3p syndrome

ORPHA:1620Мальформация

Distal deletion 4q syndrome

ORPHA:96145Мальформация

Distal deletion 6p syndrome

ORPHA:96125Мальформация
Not applicable, Unknown