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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Böök syndrome

ORPHA:1262Порок
Autosomal dominant

C syndrome

ORPHA:1308Порок
Not applicable, Unknown

CAMOS syndrome

ORPHA:83472Порок
Autosomal recessive

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

ORPHA:692193Порок
Autosomal dominant

CHAND syndrome

ORPHA:1401Порок
Autosomal recessive

CHARGE syndrome

ORPHA:138Порок
Autosomal dominant, Unknown

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

ORPHA:599082Порок
Autosomal dominant

CHIME syndrome

ORPHA:3474Порок
Autosomal recessive

CK syndrome

ORPHA:251383Порок
X-linked recessive

CLAPO syndrome

ORPHA:168984Порок
Unknown

CLOVES syndrome

ORPHA:140944Порок
Not applicable

CODAS syndrome

ORPHA:1458Порок
Autosomal recessive

Caffey disease

ORPHA:1310Порок
Autosomal dominant, Unknown

Calvarial doughnut lesions-bone fragility syndrome

ORPHA:85192Порок
Autosomal dominant

Campomelia, Cumming type

ORPHA:1318Порок
Autosomal recessive

Campomelic dysplasia

ORPHA:140Порок
Autosomal dominant

Camptobrachydactyly

ORPHA:1319Порок
Autosomal dominant

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327Порок
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326Порок
Autosomal recessive

Camptodactyly syndrome, Guadalajara type 3

ORPHA:488434Порок

Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

ORPHA:1321Порок

Camptodactyly-joint contractures-facial skeletal defects syndrome

ORPHA:1323Порок
Autosomal dominant, Autosomal recessive

Camptodactyly-taurinuria syndrome

ORPHA:1325Порок
Autosomal dominant

Camurati-Engelmann disease

ORPHA:1328Порок
Autosomal dominant