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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

ORPHA:90791Заболевание
Autosomal recessive

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

ORPHA:95699Заболевание
Autosomal recessive

Congenital agenesis of the scrotum

ORPHA:495879Морф.

Congenital alpha2-antiplasmin deficiency

ORPHA:79Заболевание
Autosomal recessive

Congenital alveolar capillary dysplasia

ORPHA:210122Заболевание
Autosomal dominant

Congenital amegakaryocytic thrombocytopenia

ORPHA:3319Заболевание
Autosomal recessive

Congenital analbuminemia

ORPHA:86816Заболевание
Autosomal recessive

Congenital aortic valve stenosis

ORPHA:3093Морф.

Congenital aortopulmonary window

ORPHA:2037Морф.

Congenital atransferrinemia

ORPHA:1195Заболевание
Autosomal recessive

Congenital autosomal recessive small-platelet thrombocytopenia

ORPHA:566192Заболевание
Autosomal recessive

Congenital axonal neuropathy with encephalopathy

ORPHA:538101Заболевание

Congenital bilateral absence of vas deferens

ORPHA:48Морф.
Multigenic/multifactorial

Congenital bile acid synthesis defect type 1

ORPHA:79301Заболевание
Autosomal recessive

Congenital bile acid synthesis defect type 2

ORPHA:79303Заболевание
Autosomal recessive

Congenital bile acid synthesis defect type 3

ORPHA:79302Заболевание
Autosomal recessive

Congenital bile acid synthesis defect type 4

ORPHA:79095Заболевание
Autosomal recessive

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Порок

Congenital brain dysgenesis due to glutamine synthetase deficiency

ORPHA:71278Заболевание
Autosomal recessive

Congenital cataract microcornea with corneal opacity

ORPHA:289499Порок
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Порок
Autosomal dominant

Congenital cataract-hearing loss-severe developmental delay syndrome

ORPHA:300313Заболевание
Autosomal recessive

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

ORPHA:1369Заболевание
Autosomal recessive

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

ORPHA:330054Заболевание
Autosomal recessive