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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

ORPHA:521432Disease
Autosomal recessive

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Malform.
Autosomal recessive

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 communicating hydrocephalus

ORPHA:269505Clin. sub.
Autosomal recessive

Congenital complete agenesis of pericardium

ORPHA:99129Morph.
Not applicable

Congenital contractural arachnodactyly

ORPHA:115Malform.
Autosomal dominant

Congenital cornea plana

ORPHA:53691Morph.
Autosomal dominant, Autosomal recessive

Congenital cystic eye

ORPHA:519384Morph.

Congenital deficiency in alpha-fetoprotein

ORPHA:168612Bio anom.
Autosomal recessive

Congenital diaphragmatic hernia

ORPHA:2140Morph.
Multigenic/multifactorial, Not applicable

Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome

ORPHA:714487Disease
Autosomal recessive

Congenital disorder of glycosylation

ORPHA:137Cat.
Autosomal recessive, X-linked recessive

Congenital dyserythropoietic anemia

ORPHA:85Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked 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 ectropion uveae

ORPHA:91491Malform.

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910Disease