MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

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 esophageal stenosis

ORPHA:645749Morph.

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

Congenital fiber-type disproportion myopathy

ORPHA:2020Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital fibrinogen deficiency

ORPHA:335Kr.
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

ORPHA:45358Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Congenital generalized lipodystrophy type 4

ORPHA:228429Kl. subt.
Autosomal recessive

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Kr.
Autosomal dominant, Not applicable

Congenital generalized hypertrichosis, Ambras type

ORPHA:1023Kl. subt.
Unknown

Congenital generalized lipodystrophy

ORPHA:528Kr.
Autosomal recessive

Congenital generalized lipodystrophy type 1

ORPHA:696189Kl. subt.
Autosomal recessive

Congenital generalized lipodystrophy type 2

ORPHA:696289Kl. subt.
Autosomal recessive

Congenital generalized lipodystrophy type 3

ORPHA:696206Kl. subt.
Autosomal recessive

Congenital glaucoma

ORPHA:98976Kr.
Autosomal dominant, Autosomal recessive, Not applicable