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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Congenital short bowel syndrome

ORPHA:2301Морф.
Autosomal recessive, X-linked recessive

Congenital sialidosis type 2

ORPHA:93400Клин. подт.
Autosomal recessive

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

ORPHA:369861Заболевание
Autosomal recessive

Congenital smooth muscle hamartoma

ORPHA:263435Заболевание
Not applicable

Congenital sodium diarrhea

ORPHA:103908Заболевание
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness

ORPHA:215Клин. гр.
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital stationary night blindness, Riggs type

ORPHA:714096Заболевание
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Заболевание
Autosomal recessive, X-linked recessive

Congenital stromal corneal dystrophy

ORPHA:101068Заболевание
Autosomal dominant

Congenital subglottic stenosis

ORPHA:141121Порок

Congenital sucrase-isomaltase deficiency

ORPHA:35122Заболевание
Autosomal recessive

Congenital symblepharon

ORPHA:98948Клин. подт.

Congenital syphilis

ORPHA:499009Заболевание
Not applicable

Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency

ORPHA:714493Заболевание
Autosomal recessive

Congenital thrombotic thrombocytopenic purpura

ORPHA:93583Клин. подт.
Autosomal recessive

Congenital total pulmonary venous return anomaly

ORPHA:99125Морф.
Not applicable

Congenital toxoplasmosis

ORPHA:858Заболевание
Not applicable

Congenital tracheal stenosis

ORPHA:141127Морф.
Not applicable

Congenital tracheomalacia

ORPHA:95430Морф.
No data available

Congenital tricuspid stenosis

ORPHA:95459Морф.

Congenital tricuspid valve dysplasia

ORPHA:555874Морф.

Congenital trigeminal anesthesia

ORPHA:231013Заболевание
Not applicable

Congenital trochlear nerve palsy

ORPHA:98686Заболевание
Not applicable

Congenital tufting enteropathy

ORPHA:92050Заболевание
Autosomal recessive