MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Congenital enteropathy due to enteropeptidase deficiency

ORPHA:168601Заболевание
Autosomal recessive

Congenital enterovirus infection

ORPHA:292Заболевание
Not applicable

Congenital epulis

ORPHA:157826Заболевание

Congenital erosive and vesicular dermatosis

ORPHA:231573Заболевание
Not applicable

Congenital erythropoietic porphyria

ORPHA:79277Заболевание
Autosomal recessive

Congenital esophageal stenosis

ORPHA:645749Морф. аномалия

Congenital factor II deficiency

ORPHA:325Заболевание
Autosomal recessive

Congenital factor V deficiency

ORPHA:326Заболевание
Autosomal recessive

Congenital factor VII deficiency

ORPHA:327Заболевание
Autosomal dominant, Autosomal recessive

Congenital factor X deficiency

ORPHA:328Заболевание
Autosomal recessive

Congenital factor XI deficiency

ORPHA:329Заболевание
Autosomal dominant, Autosomal recessive

Congenital factor XII deficiency

ORPHA:330Заболевание
Autosomal recessive

Congenital factor XIII deficiency

ORPHA:331Заболевание
Autosomal recessive, Not applicable

Congenital fiber-type disproportion myopathy

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

Congenital fibrinogen deficiency

ORPHA:335Заболевание
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

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

Congenital generalized lipodystrophy type 4

ORPHA:228429Клин. подтип
Autosomal recessive

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Заболевание
Autosomal dominant, Not applicable

Congenital generalized hypertrichosis, Ambras type

ORPHA:1023Клин. подтип
Unknown

Congenital generalized lipodystrophy

ORPHA:528Заболевание
Autosomal recessive

Congenital generalized lipodystrophy type 1

ORPHA:696189Клин. подтип
Autosomal recessive

Congenital generalized lipodystrophy type 2

ORPHA:696289Клин. подтип
Autosomal recessive

Congenital generalized lipodystrophy type 3

ORPHA:696206Клин. подтип
Autosomal recessive

Congenital glaucoma

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