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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:90791Disease
Autosomal recessive

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

ORPHA:95699Disease
Autosomal recessive

Congenital agenesis of the scrotum

ORPHA:495879Morph.

Congenital alpha2-antiplasmin deficiency

ORPHA:79Disease
Autosomal recessive

Congenital alveolar capillary dysplasia

ORPHA:210122Disease
Autosomal dominant

Congenital amegakaryocytic thrombocytopenia

ORPHA:3319Disease
Autosomal recessive

Congenital analbuminemia

ORPHA:86816Disease
Autosomal recessive

Congenital aortic valve stenosis

ORPHA:3093Morph.

Congenital aortopulmonary window

ORPHA:2037Morph.

Congenital atransferrinemia

ORPHA:1195Disease
Autosomal recessive

Congenital autosomal recessive small-platelet thrombocytopenia

ORPHA:566192Disease
Autosomal recessive

Congenital axonal neuropathy with encephalopathy

ORPHA:538101Disease

Congenital bilateral absence of vas deferens

ORPHA:48Morph.
Multigenic/multifactorial

Congenital bile acid synthesis defect type 1

ORPHA:79301Disease
Autosomal recessive

Congenital bile acid synthesis defect type 2

ORPHA:79303Disease
Autosomal recessive

Congenital bile acid synthesis defect type 3

ORPHA:79302Disease
Autosomal recessive

Congenital bile acid synthesis defect type 4

ORPHA:79095Disease
Autosomal recessive

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Malform.

Congenital brain dysgenesis due to glutamine synthetase deficiency

ORPHA:71278Disease
Autosomal recessive

Congenital cataract microcornea with corneal opacity

ORPHA:289499Malform.
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Malform.
Autosomal dominant

Congenital cataract-hearing loss-severe developmental delay syndrome

ORPHA:300313Disease
Autosomal recessive

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

ORPHA:1369Disease
Autosomal recessive

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

ORPHA:330054Disease
Autosomal recessive