MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Distal 17p13.3 microdeletion syndrome

ORPHA:261257Мальф.
Not applicable

Distal 22q11.2 microdeletion syndrome

ORPHA:261330Мальф.
Autosomal dominant

Distal 22q11.2 microduplication syndrome

ORPHA:261337Мальф.
Autosomal dominant

Distal 7q11.23 microdeletion syndrome

ORPHA:254351Мальф.
Autosomal dominant, Not applicable

Distal 7q11.23 microduplication syndrome

ORPHA:261102Мальф.

Distal Xq28 microduplication syndrome

ORPHA:293939Мальф.
X-linked recessive

Distal anoctaminopathy

ORPHA:399096Ауру
Autosomal recessive

Distal arthrogryposis type 1

ORPHA:1146Мальф.
Autosomal dominant

Distal arthrogryposis type 10

ORPHA:251515Мальф.
Autosomal dominant

Distal arthrogryposis type 5D

ORPHA:329457Ауру
Autosomal recessive

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

ORPHA:707937Мальф.
Autosomal recessive

Distal deletion 10p syndrome

ORPHA:1580Клин. топ
Not applicable, Unknown

Distal deletion 10q syndrome

ORPHA:96148Мальф.
Not applicable, Unknown

Distal deletion 12p syndrome

ORPHA:280325Мальф.

Distal deletion 12q syndrome

ORPHA:96149Мальф.

Distal deletion 13q syndrome

ORPHA:1590Мальф.

Distal deletion 14q syndrome

ORPHA:96150Мальф.

Distal deletion 15q syndrome

ORPHA:1596Мальф.

Distal deletion 17q syndrome

ORPHA:1597Мальф.
Not applicable, Unknown

Distal deletion 19p syndrome

ORPHA:96129Мальф.

Distal deletion 1q syndrome

ORPHA:36367Мальф.

Distal deletion 3p syndrome

ORPHA:1620Мальф.

Distal deletion 4q syndrome

ORPHA:96145Мальф.

Distal deletion 6p syndrome

ORPHA:96125Мальф.
Not applicable, Unknown