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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Cochlear nerve deficiency

ORPHA:502318Морф.

Cochleosaccular degeneration-cataract syndrome

ORPHA:3233Мальф.

Cochleovestibular malformation

ORPHA:502305Морф.

Cockayne syndrome

ORPHA:191Ауру
Autosomal recessive

Cockayne syndrome type 1

ORPHA:90321Клин. под.
Autosomal recessive

Cockayne syndrome type 2

ORPHA:90322Клин. под.
Autosomal recessive

Cockayne syndrome type 3

ORPHA:90324Клин. под.
Autosomal recessive

Coenzyme Q10 deficiency

ORPHA:35656Клин. топ
Autosomal recessive

Coffin-Lowry syndrome

ORPHA:192Мальф.
X-linked dominant

Coffin-Siris syndrome

ORPHA:1465Мальф.
Autosomal dominant

Cogan syndrome

ORPHA:1467Ауру
Not applicable

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

ORPHA:444077Мальф.
Autosomal dominant, Not applicable

Cohen syndrome

ORPHA:193Мальф.
Autosomal recessive

Cohen-Gibson syndrome

ORPHA:659396Мальф.
Autosomal dominant

Colchicine poisoning

ORPHA:31824Жағдай
Not applicable

Cold agglutinin disease

ORPHA:56425Ауру
Multigenic/multifactorial

Cold-induced sweating syndrome

ORPHA:157820Ауру
Autosomal recessive

Cold-induced sweating syndrome-hyperthermia spectrum

ORPHA:401993Клин. топ
Autosomal recessive

Cole-Carpenter syndrome

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

Collecting duct carcinoma

ORPHA:247203Ауру
Not applicable

Coloboma of choroid and retina

ORPHA:98942Морф.
Autosomal dominant

Coloboma of eye lens

ORPHA:98943Морф.

Coloboma of eyelid

ORPHA:98946Морф.

Coloboma of iris

ORPHA:98944Морф.