MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Congenital enteropathy due to enteropeptidase deficiency

ORPHA:168601Ауру
Autosomal recessive

Congenital enterovirus infection

ORPHA:292Ауру
Not applicable

Congenital epulis

ORPHA:157826Ауру

Congenital erosive and vesicular dermatosis

ORPHA:231573Ауру
Not applicable

Congenital erythropoietic porphyria

ORPHA:79277Ауру
Autosomal recessive

Congenital esophageal stenosis

ORPHA:645749Морф.

Congenital factor II deficiency

ORPHA:325Ауру
Autosomal recessive

Congenital factor V deficiency

ORPHA:326Ауру
Autosomal recessive

Congenital factor VII deficiency

ORPHA:327Ауру
Autosomal dominant, Autosomal recessive

Congenital factor X deficiency

ORPHA:328Ауру
Autosomal recessive

Congenital factor XI deficiency

ORPHA:329Ауру
Autosomal dominant, Autosomal recessive

Congenital factor XII deficiency

ORPHA:330Ауру
Autosomal recessive

Congenital factor XIII deficiency

ORPHA:331Ауру
Autosomal recessive, Not applicable

Congenital fiber-type disproportion myopathy

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

Congenital fibrinogen deficiency

ORPHA:335Ауру
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

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

Congenital generalized lipodystrophy type 4

ORPHA:228429Клин. под.
Autosomal recessive

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Ауру
Autosomal dominant, Not applicable

Congenital generalized hypertrichosis, Ambras type

ORPHA:1023Клин. под.
Unknown

Congenital generalized lipodystrophy

ORPHA:528Ауру
Autosomal recessive

Congenital generalized lipodystrophy type 1

ORPHA:696189Клин. под.
Autosomal recessive

Congenital generalized lipodystrophy type 2

ORPHA:696289Клин. под.
Autosomal recessive

Congenital generalized lipodystrophy type 3

ORPHA:696206Клин. под.
Autosomal recessive

Congenital glaucoma

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