MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Chylomicron retention disease

ORPHA:71Заболевание
Autosomal recessive

Chylous ascites

ORPHA:1160Заболевание

Chédiak-Higashi syndrome

ORPHA:167Заболевание
Autosomal recessive

Circumscribed palmoplantar hypokeratosis

ORPHA:69744Заболевание
Unknown

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854Заболевание
Autosomal recessive

Citrin deficiency

ORPHA:247582Категория
Autosomal recessive

Citrullinemia

ORPHA:187Категория
Autosomal recessive

Citrullinemia type I

ORPHA:247525Заболевание
Autosomal recessive

Citrullinemia type II

ORPHA:247585Заболевание
Autosomal recessive

Clark-Baraitser syndrome

ORPHA:600731Мальформация

Class I glucose-6-phosphate dehydrogenase deficiency

ORPHA:466026Заболевание
X-linked recessive

Classic Hodgkin lymphoma

ORPHA:391Заболевание
Unknown

Classic Hodgkin lymphoma, lymphocyte-depleted type

ORPHA:98846Гист. подтип

Classic Hodgkin lymphoma, lymphocyte-rich type

ORPHA:98845Гист. подтип

Classic Hodgkin lymphoma, mixed cellularity type

ORPHA:98844Гист. подтип

Classic Hodgkin lymphoma, nodular sclerosis type

ORPHA:98843Гист. подтип

Classic bladder exstrophy

ORPHA:93930Клин. подтип
Multigenic/multifactorial

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ORPHA:90794Заболевание
Autosomal recessive

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

ORPHA:315306Клин. подтип
Autosomal recessive

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

ORPHA:315311Клин. подтип
Autosomal recessive

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

ORPHA:325524Клин. подтип
Autosomal recessive

Classic eosinophilic pustular folliculitis

ORPHA:617408Заболевание

Classic galactosemia

ORPHA:79239Заболевание
Autosomal recessive

Classic glucose transporter type 1 deficiency syndrome

ORPHA:71277Заболевание
Autosomal dominant, Autosomal recessive