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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Laryngotracheoesophageal cleft type 2

ORPHA:93939Clin. sub.

Laryngotracheoesophageal cleft type 3

ORPHA:93940Clin. sub.

Laryngotracheoesophageal cleft type 4

ORPHA:93941Clin. sub.

Larynx atresia

ORPHA:1202Malform.
Autosomal dominant

Lassa fever

ORPHA:99824Disease

Late infantile CACH syndrome

ORPHA:157716Clin. sub.
Autosomal recessive

Late infantile CLN1 disease

ORPHA:699734Clin. sub.
Autosomal recessive

Late infantile CLN10 disease

ORPHA:700492Clin. sub.
Autosomal recessive

Late infantile CLN2 disease

ORPHA:699761Clin. sub.
Autosomal recessive

Late infantile CLN5 disease

ORPHA:699802Clin. sub.

Late infantile CLN6 disease

ORPHA:700467Clin. sub.
Autosomal recessive

Late infantile CLN8 disease

ORPHA:700484Clin. sub.
Autosomal recessive

Late-infantile/juvenile Krabbe disease

ORPHA:206443Clin. sub.
Autosomal recessive

Late-onset Steinert myotonic dystrophy

ORPHA:589833Clin. sub.
Autosomal dominant

Late-onset citrullinemia type I

ORPHA:247573Clin. sub.
Autosomal recessive

Late-onset combined immunodeficiency due to ICOS deficiency

ORPHA:695183Disease
Autosomal recessive

Late-onset combined immunodeficiency due to ICOSL deficiency

ORPHA:695191Disease

Late-onset distal myopathy, Markesbery-Griggs type

ORPHA:98912Disease
Autosomal dominant

Late-onset familial hypoaldosteronism

ORPHA:556037Clin. sub.

Late-onset focal dermal elastosis

ORPHA:228227Disease
Not applicable

Late-onset idiopathic chronic pancreatitis

ORPHA:700139Clin. sub.
Not applicable

Late-onset isolated ACTH deficiency

ORPHA:199299Disease
Not applicable

Late-onset junctional epidermolysis bullosa

ORPHA:79406Disease
Autosomal recessive

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

ORPHA:231556Disease
Unknown