MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

ORPHA:436174Заболевание
Autosomal recessive

Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1375Мальформация
Autosomal recessive

Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387Мальформация
Autosomal recessive

Cataract-microcornea syndrome

ORPHA:1377Мальформация
Autosomal dominant, Autosomal recessive

Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380Мальформация
Autosomal recessive

Catastrophic antiphospholipid syndrome

ORPHA:464343Заболевание
Not applicable

Catecholaminergic polymorphic ventricular tachycardia

ORPHA:3286Заболевание
Autosomal dominant, Autosomal recessive

Catel-Manzke syndrome

ORPHA:1388Мальформация
Autosomal recessive

Cathepsin A-related arteriopathy-strokes-leukoencephalopathy

ORPHA:575553Заболевание
Autosomal dominant

Caudal appendage-deafness syndrome

ORPHA:1123Мальформация

Caudal duplication

ORPHA:1756Мальформация
Not applicable

Caudal regression syndrome

ORPHA:3027Мальформация
Multigenic/multifactorial, Not applicable

Cavitary myiasis

ORPHA:165958Заболевание
Not applicable

Celiac artery compression syndrome

ORPHA:293208Заболевание
Not applicable

Celiac disease-epilepsy-cerebral calcification syndrome

ORPHA:1459Заболевание
Not applicable

Cenani-Lenz syndrome

ORPHA:3258Мальформация
Autosomal recessive

Central areolar choroidal dystrophy

ORPHA:75377Заболевание
Autosomal dominant

Central cloudy dystrophy of François

ORPHA:98972Заболевание
Autosomal dominant

Central congenital hypothyroidism

ORPHA:226298Клин. группа

Central core disease

ORPHA:597Заболевание
Autosomal dominant

Central giant cell granuloma

ORPHA:696078Заболевание
Not applicable

Central nervous system embryonal tumor

ORPHA:251870Клин. группа
Not applicable

Central neurocytoma

ORPHA:73256Заболевание
Not applicable

Central retinal artery occlusion

ORPHA:648684Заболевание