Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Autosomal recessive
Childhood, Infancy
Cataract-hypertrichosis-intellectual disability syndrome
Autosomal recessive
Neonatal
Cataract-intellectual disability-hypogonadism syndrome
Autosomal recessive
Neonatal
Cataract-microcornea syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Cataract-nephropathy-encephalopathy syndrome
Autosomal recessive
Neonatal
Catastrophic antiphospholipid syndrome
Not applicable
Adult
Catecholaminergic polymorphic ventricular tachycardia
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood
Catel-Manzke syndrome
Autosomal recessive
Antenatal, Neonatal
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
Autosomal dominant
Adult
Caudal appendage-deafness syndrome
Neonatal
Caudal duplication
Not applicable
Antenatal, Neonatal
Caudal regression syndrome
Multigenic/multifactorial, Not applicable
Antenatal, Neonatal
Cavitary myiasis
Not applicable
All ages
Celiac artery compression syndrome
Not applicable
Adolescent, Adult, Childhood, Elderly
Celiac disease-epilepsy-cerebral calcification syndrome
Not applicable
Childhood
Cenani-Lenz syndrome
Autosomal recessive
Infancy, Neonatal
Central areolar choroidal dystrophy
Autosomal dominant
Adult
Central cloudy dystrophy of François
Autosomal dominant
Childhood
Central congenital hypothyroidism
Central core disease
Autosomal dominant
Childhood
Central giant cell granuloma
Not applicable
Central nervous system embryonal tumor
Not applicable
Childhood
Central neurocytoma
Not applicable
Adolescent, Adult, Childhood
Central retinal artery occlusion
All ages