MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Congenital central hypoventilation syndrome

ORPHA:661Kr.
Autosomal dominant, Not applicable

Congenital cerebellar ataxia due to RNU12 mutation

ORPHA:512260Kr.
Autosomal recessive

Congenital cervical spinal stenosis

ORPHA:831Kr.

Congenital chloride diarrhea

ORPHA:53689Kr.
Autosomal recessive

Congenital chronic diarrhea with protein-losing enteropathy

ORPHA:329242Kr.
Autosomal recessive

Congenital chylothorax

ORPHA:264688Kr.
Not applicable, Unknown

Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome

ORPHA:714487Kr.
Autosomal recessive

Congenital dyserythropoietic anemia type I

ORPHA:98869Kr.
Autosomal recessive

Congenital dyserythropoietic anemia type II

ORPHA:98873Kr.
Autosomal recessive

Congenital dyserythropoietic anemia type III

ORPHA:98870Kr.
Autosomal dominant, Autosomal recessive

Congenital dyserythropoietic anemia type IV

ORPHA:293825Kr.
Autosomal dominant

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910Kr.

Congenital enteropathy due to enteropeptidase deficiency

ORPHA:168601Kr.
Autosomal recessive

Congenital enterovirus infection

ORPHA:292Kr.
Not applicable

Congenital epulis

ORPHA:157826Kr.

Congenital erosive and vesicular dermatosis

ORPHA:231573Kr.
Not applicable

Congenital erythropoietic porphyria

ORPHA:79277Kr.
Autosomal recessive

Congenital factor II deficiency

ORPHA:325Kr.
Autosomal recessive

Congenital factor V deficiency

ORPHA:326Kr.
Autosomal recessive

Congenital factor VII deficiency

ORPHA:327Kr.
Autosomal dominant, Autosomal recessive

Congenital factor X deficiency

ORPHA:328Kr.
Autosomal recessive

Congenital factor XI deficiency

ORPHA:329Kr.
Autosomal dominant, Autosomal recessive

Congenital factor XII deficiency

ORPHA:330Kr.
Autosomal recessive

Congenital factor XIII deficiency

ORPHA:331Kr.
Autosomal recessive, Not applicable