MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

7q31 microdeletion syndrome

ORPHA:251061Мальф.
Not applicable, Unknown

8p inverted duplication/deletion syndrome

ORPHA:96092Мальф.
Not applicable, Unknown

8p11.2 deletion syndrome

ORPHA:251066Мальф.
Not applicable, Unknown

8p23.1 duplication syndrome

ORPHA:251076Мальф.
Not applicable, Unknown

8p23.1 microdeletion syndrome

ORPHA:251071Мальф.
Not applicable, Unknown

8q12 microduplication syndrome

ORPHA:228399Мальф.
Not applicable, Unknown

8q21.11 microdeletion syndrome

ORPHA:284160Мальф.
Autosomal dominant, Not applicable

8q22.1 microdeletion syndrome

ORPHA:178303Мальф.
Not applicable, Unknown

8q24.3 microdeletion syndrome

ORPHA:508488Мальф.
Not applicable

9p13 microdeletion syndrome

ORPHA:324313Мальф.
Not applicable, Unknown

9q21.13 microdeletion syndrome

ORPHA:531151Мальф.
Not applicable

9q31.1q31.3 microdeletion syndrome

ORPHA:401923Мальф.
Unknown

9q33.3q34.11 microdeletion syndrome

ORPHA:495818Мальф.
Not applicable

ADULT syndrome

ORPHA:978Мальф.
Autosomal dominant

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

ORPHA:412069Мальф.
Autosomal dominant

AREDYLD syndrome

ORPHA:1133Мальф.
Autosomal recessive

Aarskog-Scott syndrome

ORPHA:915Мальф.
Autosomal dominant, Autosomal recessive, X-linked recessive

Aase-Smith syndrome type 1

ORPHA:916Мальф.
Autosomal dominant

Ablepharon macrostomia syndrome

ORPHA:920Мальф.
Autosomal dominant

Abruzzo-Erickson syndrome

ORPHA:921Мальф.
X-linked recessive

Absence deformity of leg-cataract syndrome

ORPHA:2310Мальф.

Absent radius-anogenital anomalies syndrome

ORPHA:3016Мальф.

Absent thumb-short stature-immunodeficiency syndrome

ORPHA:2951Мальф.
Unknown

Absent tibia-polydactyly-arachnoid cyst syndrome

ORPHA:3328Мальф.
Unknown