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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Congenital short bowel syndrome

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

Congenital sialidosis type 2

ORPHA:93400Clin. sub.
Autosomal recessive

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

ORPHA:369861Disease
Autosomal recessive

Congenital smooth muscle hamartoma

ORPHA:263435Disease
Not applicable

Congenital sodium diarrhea

ORPHA:103908Disease
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness

ORPHA:215Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital stationary night blindness, Riggs type

ORPHA:714096Disease
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Disease
Autosomal recessive, X-linked recessive

Congenital stromal corneal dystrophy

ORPHA:101068Disease
Autosomal dominant

Congenital subglottic stenosis

ORPHA:141121Malform.

Congenital sucrase-isomaltase deficiency

ORPHA:35122Disease
Autosomal recessive

Congenital symblepharon

ORPHA:98948Clin. sub.

Congenital syphilis

ORPHA:499009Disease
Not applicable

Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency

ORPHA:714493Disease
Autosomal recessive

Congenital thrombotic thrombocytopenic purpura

ORPHA:93583Clin. sub.
Autosomal recessive

Congenital total pulmonary venous return anomaly

ORPHA:99125Morph.
Not applicable

Congenital toxoplasmosis

ORPHA:858Disease
Not applicable

Congenital tracheal stenosis

ORPHA:141127Morph.
Not applicable

Congenital tracheomalacia

ORPHA:95430Morph.
No data available

Congenital tricuspid stenosis

ORPHA:95459Morph.

Congenital tricuspid valve dysplasia

ORPHA:555874Morph.

Congenital trigeminal anesthesia

ORPHA:231013Disease
Not applicable

Congenital trochlear nerve palsy

ORPHA:98686Disease
Not applicable

Congenital tufting enteropathy

ORPHA:92050Disease
Autosomal recessive