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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Cochlear nerve deficiency

ORPHA:502318Morph.

Cochleosaccular degeneration-cataract syndrome

ORPHA:3233Malform.

Cochleovestibular malformation

ORPHA:502305Morph.

Cockayne syndrome

ORPHA:191Disease
Autosomal recessive

Cockayne syndrome type 1

ORPHA:90321Clin. sub.
Autosomal recessive

Cockayne syndrome type 2

ORPHA:90322Clin. sub.
Autosomal recessive

Cockayne syndrome type 3

ORPHA:90324Clin. sub.
Autosomal recessive

Coenzyme Q10 deficiency

ORPHA:35656Clin. grp.
Autosomal recessive

Coffin-Lowry syndrome

ORPHA:192Malform.
X-linked dominant

Coffin-Siris syndrome

ORPHA:1465Malform.
Autosomal dominant

Cogan syndrome

ORPHA:1467Disease
Not applicable

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

ORPHA:444077Malform.
Autosomal dominant, Not applicable

Cohen syndrome

ORPHA:193Malform.
Autosomal recessive

Cohen-Gibson syndrome

ORPHA:659396Malform.
Autosomal dominant

Colchicine poisoning

ORPHA:31824Situation
Not applicable

Cold agglutinin disease

ORPHA:56425Disease
Multigenic/multifactorial

Cold-induced sweating syndrome

ORPHA:157820Disease
Autosomal recessive

Cold-induced sweating syndrome-hyperthermia spectrum

ORPHA:401993Clin. grp.
Autosomal recessive

Cole-Carpenter syndrome

ORPHA:2050Malform.
Autosomal dominant, Autosomal recessive, Not applicable

Collecting duct carcinoma

ORPHA:247203Disease
Not applicable

Coloboma of choroid and retina

ORPHA:98942Morph.
Autosomal dominant

Coloboma of eye lens

ORPHA:98943Morph.

Coloboma of eyelid

ORPHA:98946Morph.

Coloboma of iris

ORPHA:98944Morph.