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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Congenital intrinsic factor deficiency

ORPHA:332Ауру
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Ауру
Autosomal recessive

Congenital isolated hyperinsulinism

ORPHA:657Клин. топ
Autosomal dominant, Autosomal recessive

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

ORPHA:495875Мальф.
Autosomal recessive

Congenital lactase deficiency

ORPHA:53690Ауру
Autosomal recessive

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

ORPHA:70472Ауру
Autosomal recessive

Congenital laryngeal cyst

ORPHA:141124Морф.

Congenital laryngeal palsy

ORPHA:137932Мальф.

Congenital laryngomalacia

ORPHA:2373Мальф.

Congenital left ventricular aneurysm

ORPHA:1055Мальф.

Congenital lethal erythroderma

ORPHA:1954Ауру
Autosomal recessive

Congenital lethal myopathy, Compton-North type

ORPHA:210163Ауру
Autosomal recessive

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Мальф.
Autosomal dominant

Congenital lipoid adrenal hyperplasia due to STAR deficency

ORPHA:90790Ауру
Autosomal recessive

Congenital lobar emphysema

ORPHA:1928Морф.
Not applicable

Congenital long QT syndrome

ORPHA:768Клин. топ
Autosomal dominant, Autosomal recessive

Congenital macroglossia

ORPHA:2430Мальф.

Congenital megacalycosis

ORPHA:93109Морф.
Unknown

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

ORPHA:69063Ауру
Autosomal recessive

Congenital mesoblastic nephroma

ORPHA:2665Ауру

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

ORPHA:391376Ауру
Autosomal recessive

Congenital microcoria

ORPHA:566Мальф.
Autosomal dominant

Congenital microgastria

ORPHA:199293Морф.

Congenital multicore myopathy with external ophthalmoplegia

ORPHA:98905Клин. под.
Autosomal recessive