Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Central retinal vein occlusion
Not applicable
Adult, Elderly
Central serous chorioretinopathy
Not applicable
Centrifugal lipodystrophy
Adolescent, Adult, Childhood, Elderly, Infancy
Centronuclear myopathy
Autosomal dominant, Autosomal recessive, X-linked recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Cephalocele
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Autosomal recessive
Adult, Elderly
Cerebellar ataxia, Cayman type
Autosomal recessive
Infancy, Neonatal
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Autosomal dominant, Mitochondrial inheritance
Infancy, Neonatal
Cerebellar ataxia-ectodermal dysplasia syndrome
Autosomal recessive
Neonatal
Cerebellar ataxia-hypogonadism syndrome
Autosomal recessive
Adolescent, Adult, Childhood
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Autosomal dominant
Neonatal
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Infancy
Cerebellar liponeurocytoma
Not applicable
Adult
Cerebellar-facial-dental syndrome
Autosomal recessive
Antenatal, Neonatal
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Autosomal dominant
Adult
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Autosomal recessive
Adolescent, Adult
Cerebral cortical dysplasia
Cerebral organic aciduria
Cerebral proliferative angiopathy
Adolescent, Adult, Childhood
Cerebral sinovenous thrombosis
All ages
Cerebral visual impairment
Not applicable
Infancy, Neonatal
Cerebrocostomandibular syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Antenatal, Neonatal
Cerebrofacioarticular syndrome
Autosomal recessive
Infancy, Neonatal
Cerebrofaciothoracic dysplasia
Autosomal recessive
Antenatal, Neonatal