MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

7q31 microdeletion syndrome

ORPHA:251061Мальформация
Not applicable, Unknown

8p inverted duplication/deletion syndrome

ORPHA:96092Мальформация
Not applicable, Unknown

8p11.2 deletion syndrome

ORPHA:251066Мальформация
Not applicable, Unknown

8p23.1 duplication syndrome

ORPHA:251076Мальформация
Not applicable, Unknown

8p23.1 microdeletion syndrome

ORPHA:251071Мальформация
Not applicable, Unknown

8q12 microduplication syndrome

ORPHA:228399Мальформация
Not applicable, Unknown

8q21.11 microdeletion syndrome

ORPHA:284160Мальформация
Autosomal dominant, Not applicable

8q22.1 microdeletion syndrome

ORPHA:178303Мальформация
Not applicable, Unknown

8q24.3 microdeletion syndrome

ORPHA:508488Мальформация
Not applicable

9p13 microdeletion syndrome

ORPHA:324313Мальформация
Not applicable, Unknown

9q21.13 microdeletion syndrome

ORPHA:531151Мальформация
Not applicable

9q31.1q31.3 microdeletion syndrome

ORPHA:401923Мальформация
Unknown

9q33.3q34.11 microdeletion syndrome

ORPHA:495818Мальформация
Not applicable

ADULT syndrome

ORPHA:978Мальформация
Autosomal dominant

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

ORPHA:412069Мальформация
Autosomal dominant

AREDYLD syndrome

ORPHA:1133Мальформация
Autosomal recessive

Aarskog-Scott syndrome

ORPHA:915Мальформация
Autosomal dominant, Autosomal recessive, X-linked recessive

Aase-Smith syndrome type 1

ORPHA:916Мальформация
Autosomal dominant

Ablepharon macrostomia syndrome

ORPHA:920Мальформация
Autosomal dominant

Abruzzo-Erickson syndrome

ORPHA:921Мальформация
X-linked recessive

Absence deformity of leg-cataract syndrome

ORPHA:2310Мальформация

Absent radius-anogenital anomalies syndrome

ORPHA:3016Мальформация

Absent thumb-short stature-immunodeficiency syndrome

ORPHA:2951Мальформация
Unknown

Absent tibia-polydactyly-arachnoid cyst syndrome

ORPHA:3328Мальформация
Unknown