MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Congenital central hypoventilation syndrome

ORPHA:661Заболевание
Autosomal dominant, Not applicable

Congenital cerebellar ataxia due to RNU12 mutation

ORPHA:512260Заболевание
Autosomal recessive

Congenital cervical spinal stenosis

ORPHA:831Заболевание

Congenital chloride diarrhea

ORPHA:53689Заболевание
Autosomal recessive

Congenital chronic diarrhea with protein-losing enteropathy

ORPHA:329242Заболевание
Autosomal recessive

Congenital chylothorax

ORPHA:264688Заболевание
Not applicable, Unknown

Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome

ORPHA:714487Заболевание
Autosomal recessive

Congenital dyserythropoietic anemia type I

ORPHA:98869Заболевание
Autosomal recessive

Congenital dyserythropoietic anemia type II

ORPHA:98873Заболевание
Autosomal recessive

Congenital dyserythropoietic anemia type III

ORPHA:98870Заболевание
Autosomal dominant, Autosomal recessive

Congenital dyserythropoietic anemia type IV

ORPHA:293825Заболевание
Autosomal dominant

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910Заболевание

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 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