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7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

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

ORPHA:90791Ауру
Autosomal recessive

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

ORPHA:95699Ауру
Autosomal recessive

Congenital agenesis of the scrotum

ORPHA:495879Морф.

Congenital alpha2-antiplasmin deficiency

ORPHA:79Ауру
Autosomal recessive

Congenital alveolar capillary dysplasia

ORPHA:210122Ауру
Autosomal dominant

Congenital amegakaryocytic thrombocytopenia

ORPHA:3319Ауру
Autosomal recessive

Congenital analbuminemia

ORPHA:86816Ауру
Autosomal recessive

Congenital aortic valve stenosis

ORPHA:3093Морф.

Congenital aortopulmonary window

ORPHA:2037Морф.

Congenital atransferrinemia

ORPHA:1195Ауру
Autosomal recessive

Congenital autosomal recessive small-platelet thrombocytopenia

ORPHA:566192Ауру
Autosomal recessive

Congenital axonal neuropathy with encephalopathy

ORPHA:538101Ауру

Congenital bilateral absence of vas deferens

ORPHA:48Морф.
Multigenic/multifactorial

Congenital bile acid synthesis defect type 1

ORPHA:79301Ауру
Autosomal recessive

Congenital bile acid synthesis defect type 2

ORPHA:79303Ауру
Autosomal recessive

Congenital bile acid synthesis defect type 3

ORPHA:79302Ауру
Autosomal recessive

Congenital bile acid synthesis defect type 4

ORPHA:79095Ауру
Autosomal recessive

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Мальф.

Congenital brain dysgenesis due to glutamine synthetase deficiency

ORPHA:71278Ауру
Autosomal recessive

Congenital cataract microcornea with corneal opacity

ORPHA:289499Мальф.
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Мальф.
Autosomal dominant

Congenital cataract-hearing loss-severe developmental delay syndrome

ORPHA:300313Ауру
Autosomal recessive

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

ORPHA:1369Ауру
Autosomal recessive

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

ORPHA:330054Ауру
Autosomal recessive