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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Congenital intrinsic factor deficiency

ORPHA:332Заболевание
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Заболевание
Autosomal recessive

Congenital isolated hyperinsulinism

ORPHA:657Клин. гр.
Autosomal dominant, Autosomal recessive

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

ORPHA:495875Порок
Autosomal recessive

Congenital lactase deficiency

ORPHA:53690Заболевание
Autosomal recessive

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

ORPHA:70472Заболевание
Autosomal recessive

Congenital laryngeal cyst

ORPHA:141124Морф.

Congenital laryngeal palsy

ORPHA:137932Порок

Congenital laryngomalacia

ORPHA:2373Порок

Congenital left ventricular aneurysm

ORPHA:1055Порок

Congenital lethal erythroderma

ORPHA:1954Заболевание
Autosomal recessive

Congenital lethal myopathy, Compton-North type

ORPHA:210163Заболевание
Autosomal recessive

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Порок
Autosomal dominant

Congenital lipoid adrenal hyperplasia due to STAR deficency

ORPHA:90790Заболевание
Autosomal recessive

Congenital lobar emphysema

ORPHA:1928Морф.
Not applicable

Congenital long QT syndrome

ORPHA:768Клин. гр.
Autosomal dominant, Autosomal recessive

Congenital macroglossia

ORPHA:2430Порок

Congenital megacalycosis

ORPHA:93109Морф.
Unknown

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

ORPHA:69063Заболевание
Autosomal recessive

Congenital mesoblastic nephroma

ORPHA:2665Заболевание

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

ORPHA:391376Заболевание
Autosomal recessive

Congenital microcoria

ORPHA:566Порок
Autosomal dominant

Congenital microgastria

ORPHA:199293Морф.

Congenital multicore myopathy with external ophthalmoplegia

ORPHA:98905Клин. подт.
Autosomal recessive