MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Distal 17p13.3 microdeletion syndrome

ORPHA:261257Malform.
Not applicable

Distal 22q11.2 microdeletion syndrome

ORPHA:261330Malform.
Autosomal dominant

Distal 22q11.2 microduplication syndrome

ORPHA:261337Malform.
Autosomal dominant

Distal 7q11.23 microdeletion syndrome

ORPHA:254351Malform.
Autosomal dominant, Not applicable

Distal 7q11.23 microduplication syndrome

ORPHA:261102Malform.

Distal Xq28 microduplication syndrome

ORPHA:293939Malform.
X-linked recessive

Distal anoctaminopathy

ORPHA:399096Disease
Autosomal recessive

Distal arthrogryposis type 1

ORPHA:1146Malform.
Autosomal dominant

Distal arthrogryposis type 10

ORPHA:251515Malform.
Autosomal dominant

Distal arthrogryposis type 5D

ORPHA:329457Disease
Autosomal recessive

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

ORPHA:707937Malform.
Autosomal recessive

Distal deletion 10p syndrome

ORPHA:1580Clin. grp.
Not applicable, Unknown

Distal deletion 10q syndrome

ORPHA:96148Malform.
Not applicable, Unknown

Distal deletion 12p syndrome

ORPHA:280325Malform.

Distal deletion 12q syndrome

ORPHA:96149Malform.

Distal deletion 13q syndrome

ORPHA:1590Malform.

Distal deletion 14q syndrome

ORPHA:96150Malform.

Distal deletion 15q syndrome

ORPHA:1596Malform.

Distal deletion 17q syndrome

ORPHA:1597Malform.
Not applicable, Unknown

Distal deletion 19p syndrome

ORPHA:96129Malform.

Distal deletion 1q syndrome

ORPHA:36367Malform.

Distal deletion 3p syndrome

ORPHA:1620Malform.

Distal deletion 4q syndrome

ORPHA:96145Malform.

Distal deletion 6p syndrome

ORPHA:96125Malform.
Not applicable, Unknown