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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

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

ORPHA:436174Disease
Autosomal recessive

Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1375Malform.
Autosomal recessive

Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387Malform.
Autosomal recessive

Cataract-microcornea syndrome

ORPHA:1377Malform.
Autosomal dominant, Autosomal recessive

Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380Malform.
Autosomal recessive

Catastrophic antiphospholipid syndrome

ORPHA:464343Disease
Not applicable

Catecholaminergic polymorphic ventricular tachycardia

ORPHA:3286Disease
Autosomal dominant, Autosomal recessive

Catel-Manzke syndrome

ORPHA:1388Malform.
Autosomal recessive

Cathepsin A-related arteriopathy-strokes-leukoencephalopathy

ORPHA:575553Disease
Autosomal dominant

Caudal appendage-deafness syndrome

ORPHA:1123Malform.

Caudal duplication

ORPHA:1756Malform.
Not applicable

Caudal regression syndrome

ORPHA:3027Malform.
Multigenic/multifactorial, Not applicable

Cavitary myiasis

ORPHA:165958Disease
Not applicable

Celiac artery compression syndrome

ORPHA:293208Disease
Not applicable

Celiac disease-epilepsy-cerebral calcification syndrome

ORPHA:1459Disease
Not applicable

Cenani-Lenz syndrome

ORPHA:3258Malform.
Autosomal recessive

Central areolar choroidal dystrophy

ORPHA:75377Disease
Autosomal dominant

Central cloudy dystrophy of François

ORPHA:98972Disease
Autosomal dominant

Central congenital hypothyroidism

ORPHA:226298Clin. grp.

Central core disease

ORPHA:597Disease
Autosomal dominant

Central giant cell granuloma

ORPHA:696078Disease
Not applicable

Central nervous system embryonal tumor

ORPHA:251870Clin. grp.
Not applicable

Central neurocytoma

ORPHA:73256Disease
Not applicable

Central retinal artery occlusion

ORPHA:648684Disease