MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Central cloudy dystrophy of François

ORPHA:98972Заболевание
Autosomal dominant

Central core disease

ORPHA:597Заболевание
Autosomal dominant

Central giant cell granuloma

ORPHA:696078Заболевание
Not applicable

Central neurocytoma

ORPHA:73256Заболевание
Not applicable

Central retinal artery occlusion

ORPHA:648684Заболевание

Central serous chorioretinopathy

ORPHA:443079Заболевание
Not applicable

Centrifugal lipodystrophy

ORPHA:90156Заболевание

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-hypogonadism syndrome

ORPHA:1173Заболевание
Autosomal recessive

Cerebellar liponeurocytoma

ORPHA:251931Заболевание
Not applicable

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:136Заболевание
Autosomal dominant

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

ORPHA:199354Заболевание
Autosomal recessive

Cerebral proliferative angiopathy

ORPHA:692271Заболевание

Cerebral sinovenous thrombosis

ORPHA:329217Заболевание

Cerebrotendinous xanthomatosis

ORPHA:909Заболевание
Autosomal recessive

Cernunnos-XLF deficiency

ORPHA:169079Заболевание
Autosomal recessive

Cervical hypertrichosis-peripheral neuropathy syndrome

ORPHA:2218Заболевание
Autosomal recessive

Chapare hemorrhagic fever

ORPHA:319244Заболевание

Charcot-Marie-Tooth disease type 1A

ORPHA:101081Заболевание
Autosomal dominant

Charcot-Marie-Tooth disease type 1B

ORPHA:101082Заболевание
Autosomal dominant

Charcot-Marie-Tooth disease type 1C

ORPHA:101083Заболевание
Autosomal dominant

Charcot-Marie-Tooth disease type 1D

ORPHA:101084Заболевание
Autosomal dominant