MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Central retinal vein occlusion

ORPHA:411527Особая клин. ситуация
Not applicable

Central serous chorioretinopathy

ORPHA:443079Заболевание
Not applicable

Centrifugal lipodystrophy

ORPHA:90156Заболевание

Centronuclear myopathy

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

Cephalocele

ORPHA:268817Клин. группа

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:1174Мальформация
Autosomal recessive

Cerebellar ataxia-hypogonadism syndrome

ORPHA:1173Заболевание
Autosomal recessive

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

ORPHA:603448Мальформация
Autosomal dominant

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

ORPHA:2246Мальформация

Cerebellar liponeurocytoma

ORPHA:251931Заболевание
Not applicable

Cerebellar-facial-dental syndrome

ORPHA:444072Мальформация
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. группа

Cerebral organic aciduria

ORPHA:79158Категория

Cerebral proliferative angiopathy

ORPHA:692271Заболевание

Cerebral sinovenous thrombosis

ORPHA:329217Заболевание

Cerebral visual impairment

ORPHA:447788Clinical syndrome
Not applicable

Cerebrocostomandibular syndrome

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

Cerebrofacioarticular syndrome

ORPHA:314679Мальформация
Autosomal recessive

Cerebrofaciothoracic dysplasia

ORPHA:1394Мальформация
Autosomal recessive