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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Congenital enteropathy due to enteropeptidase deficiency

ORPHA:168601Disease
Autosomal recessive

Congenital enterovirus infection

ORPHA:292Disease
Not applicable

Congenital epulis

ORPHA:157826Disease

Congenital erosive and vesicular dermatosis

ORPHA:231573Disease
Not applicable

Congenital erythropoietic porphyria

ORPHA:79277Disease
Autosomal recessive

Congenital esophageal stenosis

ORPHA:645749Morph.

Congenital factor II deficiency

ORPHA:325Disease
Autosomal recessive

Congenital factor V deficiency

ORPHA:326Disease
Autosomal recessive

Congenital factor VII deficiency

ORPHA:327Disease
Autosomal dominant, Autosomal recessive

Congenital factor X deficiency

ORPHA:328Disease
Autosomal recessive

Congenital factor XI deficiency

ORPHA:329Disease
Autosomal dominant, Autosomal recessive

Congenital factor XII deficiency

ORPHA:330Disease
Autosomal recessive

Congenital factor XIII deficiency

ORPHA:331Disease
Autosomal recessive, Not applicable

Congenital fiber-type disproportion myopathy

ORPHA:2020Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital fibrinogen deficiency

ORPHA:335Disease
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

ORPHA:45358Disease
Autosomal dominant, Autosomal recessive, Not applicable

Congenital generalized lipodystrophy type 4

ORPHA:228429Clin. sub.
Autosomal recessive

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Disease
Autosomal dominant, Not applicable

Congenital generalized hypertrichosis, Ambras type

ORPHA:1023Clin. sub.
Unknown

Congenital generalized lipodystrophy

ORPHA:528Disease
Autosomal recessive

Congenital generalized lipodystrophy type 1

ORPHA:696189Clin. sub.
Autosomal recessive

Congenital generalized lipodystrophy type 2

ORPHA:696289Clin. sub.
Autosomal recessive

Congenital generalized lipodystrophy type 3

ORPHA:696206Clin. sub.
Autosomal recessive

Congenital glaucoma

ORPHA:98976Disease
Autosomal dominant, Autosomal recessive, Not applicable