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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

ORPHA:521432Ауру
Autosomal recessive

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Мальф.
Autosomal recessive

Congenital central hypoventilation syndrome

ORPHA:661Ауру
Autosomal dominant, Not applicable

Congenital cerebellar ataxia due to RNU12 mutation

ORPHA:512260Ауру
Autosomal recessive

Congenital cervical spinal stenosis

ORPHA:831Ауру

Congenital chloride diarrhea

ORPHA:53689Ауру
Autosomal recessive

Congenital chronic diarrhea with protein-losing enteropathy

ORPHA:329242Ауру
Autosomal recessive

Congenital chylothorax

ORPHA:264688Ауру
Not applicable, Unknown

Congenital communicating hydrocephalus

ORPHA:269505Клин. под.
Autosomal recessive

Congenital complete agenesis of pericardium

ORPHA:99129Морф.
Not applicable

Congenital contractural arachnodactyly

ORPHA:115Мальф.
Autosomal dominant

Congenital cornea plana

ORPHA:53691Морф.
Autosomal dominant, Autosomal recessive

Congenital cystic eye

ORPHA:519384Морф.

Congenital deficiency in alpha-fetoprotein

ORPHA:168612Био аном.
Autosomal recessive

Congenital diaphragmatic hernia

ORPHA:2140Морф.
Multigenic/multifactorial, Not applicable

Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome

ORPHA:714487Ауру
Autosomal recessive

Congenital disorder of glycosylation

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

Congenital dyserythropoietic anemia

ORPHA:85Клин. топ
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital dyserythropoietic anemia type I

ORPHA:98869Ауру
Autosomal recessive

Congenital dyserythropoietic anemia type II

ORPHA:98873Ауру
Autosomal recessive

Congenital dyserythropoietic anemia type III

ORPHA:98870Ауру
Autosomal dominant, Autosomal recessive

Congenital dyserythropoietic anemia type IV

ORPHA:293825Ауру
Autosomal dominant

Congenital ectropion uveae

ORPHA:91491Мальф.

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910Ауру