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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Central cloudy dystrophy of François

ORPHA:98972Disease
Autosomal dominant

Central core disease

ORPHA:597Disease
Autosomal dominant

Central giant cell granuloma

ORPHA:696078Disease
Not applicable

Central neurocytoma

ORPHA:73256Disease
Not applicable

Central retinal artery occlusion

ORPHA:648684Disease

Central serous chorioretinopathy

ORPHA:443079Disease
Not applicable

Centrifugal lipodystrophy

ORPHA:90156Disease

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

ORPHA:504476Disease
Autosomal recessive

Cerebellar ataxia, Cayman type

ORPHA:94122Disease
Autosomal recessive

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

ORPHA:1171Disease
Autosomal dominant, Mitochondrial inheritance

Cerebellar ataxia-hypogonadism syndrome

ORPHA:1173Disease
Autosomal recessive

Cerebellar liponeurocytoma

ORPHA:251931Disease
Not applicable

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:136Disease
Autosomal dominant

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:199354Disease
Autosomal recessive

Cerebral proliferative angiopathy

ORPHA:692271Disease

Cerebral sinovenous thrombosis

ORPHA:329217Disease

Cerebrotendinous xanthomatosis

ORPHA:909Disease
Autosomal recessive

Cernunnos-XLF deficiency

ORPHA:169079Disease
Autosomal recessive

Cervical hypertrichosis-peripheral neuropathy syndrome

ORPHA:2218Disease
Autosomal recessive

Chapare hemorrhagic fever

ORPHA:319244Disease

Charcot-Marie-Tooth disease type 1A

ORPHA:101081Disease
Autosomal dominant

Charcot-Marie-Tooth disease type 1B

ORPHA:101082Disease
Autosomal dominant

Charcot-Marie-Tooth disease type 1C

ORPHA:101083Disease
Autosomal dominant

Charcot-Marie-Tooth disease type 1D

ORPHA:101084Disease
Autosomal dominant