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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Central retinal vein occlusion

ORPHA:411527Ситуация
Not applicable

Central serous chorioretinopathy

ORPHA:443079Заболевание
Not applicable

Centrifugal lipodystrophy

ORPHA:90156Заболевание

Centronuclear myopathy

ORPHA:595Клин. гр.
Autosomal dominant, Autosomal recessive, X-linked recessive

Cephalocele

ORPHA:268817Клин. гр.

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

ORPHA:504476Заболевание
Autosomal recessive

Cerebellar ataxia, Cayman type

ORPHA:94122Заболевание
Autosomal recessive

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

ORPHA:1171Заболевание
Autosomal dominant, Mitochondrial inheritance

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174Порок
Autosomal recessive

Cerebellar ataxia-hypogonadism syndrome

ORPHA:1173Заболевание
Autosomal recessive

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

ORPHA:603448Порок
Autosomal dominant

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

ORPHA:2246Порок

Cerebellar liponeurocytoma

ORPHA:251931Заболевание
Not applicable

Cerebellar-facial-dental syndrome

ORPHA:444072Порок
Autosomal recessive

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:136Заболевание
Autosomal dominant

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:199354Заболевание
Autosomal recessive

Cerebral cortical dysplasia

ORPHA:268950Клин. гр.

Cerebral organic aciduria

ORPHA:79158Кат.

Cerebral proliferative angiopathy

ORPHA:692271Заболевание

Cerebral sinovenous thrombosis

ORPHA:329217Заболевание

Cerebral visual impairment

ORPHA:447788Clinical syndrome
Not applicable

Cerebrocostomandibular syndrome

ORPHA:1393Порок
Autosomal dominant, Autosomal recessive, Not applicable

Cerebrofacioarticular syndrome

ORPHA:314679Порок
Autosomal recessive

Cerebrofaciothoracic dysplasia

ORPHA:1394Порок
Autosomal recessive