MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

ORPHA:521432Заболевание
Autosomal recessive

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Мальформация
Autosomal recessive

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 communicating hydrocephalus

ORPHA:269505Клин. подтип
Autosomal recessive

Congenital complete agenesis of pericardium

ORPHA:99129Морф. аномалия
Not applicable

Congenital contractural arachnodactyly

ORPHA:115Мальформация
Autosomal dominant

Congenital cornea plana

ORPHA:53691Морф. аномалия
Autosomal dominant, Autosomal recessive

Congenital cystic eye

ORPHA:519384Морф. аномалия

Congenital deficiency in alpha-fetoprotein

ORPHA:168612Биоаномалия
Autosomal recessive

Congenital diaphragmatic hernia

ORPHA:2140Морф. аномалия
Multigenic/multifactorial, Not applicable

Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome

ORPHA:714487Заболевание
Autosomal recessive

Congenital disorder of glycosylation

ORPHA:137Категория
Autosomal recessive, X-linked recessive

Congenital dyserythropoietic anemia

ORPHA:85Клин. группа
Autosomal dominant, Autosomal recessive, X-linked 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 ectropion uveae

ORPHA:91491Мальформация

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910Заболевание