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

Böök syndrome

ORPHA:1262Мальформация
Autosomal dominant

C syndrome

ORPHA:1308Мальформация
Not applicable, Unknown

CAMOS syndrome

ORPHA:83472Мальформация
Autosomal recessive

CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:692193Мальформация
Autosomal dominant

CHAND syndrome

ORPHA:1401Мальформация
Autosomal recessive

CHARGE syndrome

ORPHA:138Мальформация
Autosomal dominant, Unknown

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

ORPHA:599082Мальформация
Autosomal dominant

CHIME syndrome

ORPHA:3474Мальформация
Autosomal recessive

CK syndrome

ORPHA:251383Мальформация
X-linked recessive

CLAPO syndrome

ORPHA:168984Мальформация
Unknown

CLOVES syndrome

ORPHA:140944Мальформация
Not applicable

CODAS syndrome

ORPHA:1458Мальформация
Autosomal recessive

Caffey disease

ORPHA:1310Мальформация
Autosomal dominant, Unknown

Calvarial doughnut lesions-bone fragility syndrome

ORPHA:85192Мальформация
Autosomal dominant

Campomelia, Cumming type

ORPHA:1318Мальформация
Autosomal recessive

Campomelic dysplasia

ORPHA:140Мальформация
Autosomal dominant

Camptobrachydactyly

ORPHA:1319Мальформация
Autosomal dominant

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327Мальформация
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326Мальформация
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 3

ORPHA:488434Мальформация

Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

ORPHA:1321Мальформация

Camptodactyly-joint contractures-facial skeletal defects syndrome

ORPHA:1323Мальформация
Autosomal dominant, Autosomal recessive

Camptodactyly-taurinuria syndrome

ORPHA:1325Мальформация
Autosomal dominant

Camurati-Engelmann disease

ORPHA:1328Мальформация
Autosomal dominant