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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Chylomicron retention disease

ORPHA:71Disease
Autosomal recessive

Chylous ascites

ORPHA:1160Disease

Chédiak-Higashi syndrome

ORPHA:167Disease
Autosomal recessive

Circumscribed palmoplantar hypokeratosis

ORPHA:69744Disease
Unknown

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854Disease
Autosomal recessive

Citrin deficiency

ORPHA:247582Cat.
Autosomal recessive

Citrullinemia

ORPHA:187Cat.
Autosomal recessive

Citrullinemia type I

ORPHA:247525Disease
Autosomal recessive

Citrullinemia type II

ORPHA:247585Disease
Autosomal recessive

Clark-Baraitser syndrome

ORPHA:600731Malform.

Class I glucose-6-phosphate dehydrogenase deficiency

ORPHA:466026Disease
X-linked recessive

Classic Hodgkin lymphoma

ORPHA:391Disease
Unknown

Classic Hodgkin lymphoma, lymphocyte-depleted type

ORPHA:98846Hist. sub.

Classic Hodgkin lymphoma, lymphocyte-rich type

ORPHA:98845Hist. sub.

Classic Hodgkin lymphoma, mixed cellularity type

ORPHA:98844Hist. sub.

Classic Hodgkin lymphoma, nodular sclerosis type

ORPHA:98843Hist. sub.

Classic bladder exstrophy

ORPHA:93930Clin. sub.
Multigenic/multifactorial

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ORPHA:90794Disease
Autosomal recessive

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

ORPHA:315306Clin. sub.
Autosomal recessive

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

ORPHA:315311Clin. sub.
Autosomal recessive

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

ORPHA:325524Clin. sub.
Autosomal recessive

Classic eosinophilic pustular folliculitis

ORPHA:617408Disease

Classic galactosemia

ORPHA:79239Disease
Autosomal recessive

Classic glucose transporter type 1 deficiency syndrome

ORPHA:71277Disease
Autosomal dominant, Autosomal recessive