MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

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

ORPHA:90791Kr.
Autosomal recessive

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

ORPHA:95699Kr.
Autosomal recessive

Congenital agenesis of the scrotum

ORPHA:495879Morph.

Congenital alpha2-antiplasmin deficiency

ORPHA:79Kr.
Autosomal recessive

Congenital alveolar capillary dysplasia

ORPHA:210122Kr.
Autosomal dominant

Congenital amegakaryocytic thrombocytopenia

ORPHA:3319Kr.
Autosomal recessive

Congenital analbuminemia

ORPHA:86816Kr.
Autosomal recessive

Congenital aortic valve stenosis

ORPHA:3093Morph.

Congenital aortopulmonary window

ORPHA:2037Morph.

Congenital atransferrinemia

ORPHA:1195Kr.
Autosomal recessive

Congenital autosomal recessive small-platelet thrombocytopenia

ORPHA:566192Kr.
Autosomal recessive

Congenital axonal neuropathy with encephalopathy

ORPHA:538101Kr.

Congenital bilateral absence of vas deferens

ORPHA:48Morph.
Multigenic/multifactorial

Congenital bile acid synthesis defect type 1

ORPHA:79301Kr.
Autosomal recessive

Congenital bile acid synthesis defect type 2

ORPHA:79303Kr.
Autosomal recessive

Congenital bile acid synthesis defect type 3

ORPHA:79302Kr.
Autosomal recessive

Congenital bile acid synthesis defect type 4

ORPHA:79095Kr.
Autosomal recessive

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

ORPHA:514352Malf.

Congenital brain dysgenesis due to glutamine synthetase deficiency

ORPHA:71278Kr.
Autosomal recessive

Congenital cataract microcornea with corneal opacity

ORPHA:289499Malf.
Autosomal recessive

Congenital cataract-anterior segment dysgenesis syndrome

ORPHA:162Malf.
Autosomal dominant

Congenital cataract-hearing loss-severe developmental delay syndrome

ORPHA:300313Kr.
Autosomal recessive

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

ORPHA:1369Kr.
Autosomal recessive

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

ORPHA:330054Kr.
Autosomal recessive