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

X-linked lethal multiple pterygium syndrome

ORPHA:79447Мальформация
X-linked dominant, X-linked recessive

X-linked lissencephaly with abnormal genitalia

ORPHA:452Мальформация
X-linked recessive

X-linked mandibulofacial dysostosis

ORPHA:1131Мальформация
X-linked recessive

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

ORPHA:435938Мальформация
X-linked recessive

X-linked retinoschisis

ORPHA:792Мальформация
X-linked recessive

X-linked severe syndromic thoracic aortic aneurysm and dissection

ORPHA:622925Мальформация

X-linked skeletal dysplasia-intellectual disability syndrome

ORPHA:1436Мальформация
X-linked recessive

X-linked spinocerebellar ataxia type 3

ORPHA:85297Мальформация
X-linked recessive

XK aprosencephaly syndrome

ORPHA:3469Мальформация
Autosomal recessive

XY type gonadal dysgenesis-associated anomalies syndrome

ORPHA:1770Мальформация
Autosomal recessive

Xp22.13p22.2 duplication syndrome

ORPHA:284180Мальформация
X-linked recessive

Xp22.3 microdeletion syndrome

ORPHA:1643Мальформация
Not applicable

Xq12-q13.3 duplication syndrome

ORPHA:314389Мальформация
X-linked recessive

Xq21 microdeletion syndrome

ORPHA:1435Мальформация
X-linked recessive

Xq25 microduplication syndrome

ORPHA:521258Мальформация

Xq27.3q28 duplication syndrome

ORPHA:261483Мальформация
X-linked recessive

Yunis-Varon syndrome

ORPHA:3472Мальформация
Autosomal recessive

ZTTK syndrome

ORPHA:500150Мальформация
Autosomal dominant

Zechi-Ceide syndrome

ORPHA:217017Мальформация
Autosomal recessive

Zimmermann-Laband syndrome

ORPHA:3473Мальформация
Autosomal recessive
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