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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Congenital central hypoventilation syndrome

ORPHA:661Disease
Autosomal dominant, Not applicable

Congenital cerebellar ataxia due to RNU12 mutation

ORPHA:512260Disease
Autosomal recessive

Congenital cervical spinal stenosis

ORPHA:831Disease

Congenital chloride diarrhea

ORPHA:53689Disease
Autosomal recessive

Congenital chronic diarrhea with protein-losing enteropathy

ORPHA:329242Disease
Autosomal recessive

Congenital chylothorax

ORPHA:264688Disease
Not applicable, Unknown

Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome

ORPHA:714487Disease
Autosomal recessive

Congenital dyserythropoietic anemia type I

ORPHA:98869Disease
Autosomal recessive

Congenital dyserythropoietic anemia type II

ORPHA:98873Disease
Autosomal recessive

Congenital dyserythropoietic anemia type III

ORPHA:98870Disease
Autosomal dominant, Autosomal recessive

Congenital dyserythropoietic anemia type IV

ORPHA:293825Disease
Autosomal dominant

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910Disease

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 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