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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:93939Клин. подт.

Laryngotracheoesophageal cleft type 3

ORPHA:93940Клин. подт.

Laryngotracheoesophageal cleft type 4

ORPHA:93941Клин. подт.

Larynx atresia

ORPHA:1202Порок
Autosomal dominant

Lassa fever

ORPHA:99824Заболевание

Late infantile CACH syndrome

ORPHA:157716Клин. подт.
Autosomal recessive

Late infantile CLN1 disease

ORPHA:699734Клин. подт.
Autosomal recessive

Late infantile CLN10 disease

ORPHA:700492Клин. подт.
Autosomal recessive

Late infantile CLN2 disease

ORPHA:699761Клин. подт.
Autosomal recessive

Late infantile CLN5 disease

ORPHA:699802Клин. подт.

Late infantile CLN6 disease

ORPHA:700467Клин. подт.
Autosomal recessive

Late infantile CLN8 disease

ORPHA:700484Клин. подт.
Autosomal recessive

Late-infantile/juvenile Krabbe disease

ORPHA:206443Клин. подт.
Autosomal recessive

Late-onset Steinert myotonic dystrophy

ORPHA:589833Клин. подт.
Autosomal dominant

Late-onset citrullinemia type I

ORPHA:247573Клин. подт.
Autosomal recessive

Late-onset combined immunodeficiency due to ICOS deficiency

ORPHA:695183Заболевание
Autosomal recessive

Late-onset combined immunodeficiency due to ICOSL deficiency

ORPHA:695191Заболевание

Late-onset distal myopathy, Markesbery-Griggs type

ORPHA:98912Заболевание
Autosomal dominant

Late-onset familial hypoaldosteronism

ORPHA:556037Клин. подт.

Late-onset focal dermal elastosis

ORPHA:228227Заболевание
Not applicable

Late-onset idiopathic chronic pancreatitis

ORPHA:700139Клин. подт.
Not applicable

Late-onset isolated ACTH deficiency

ORPHA:199299Заболевание
Not applicable

Late-onset junctional epidermolysis bullosa

ORPHA:79406Заболевание
Autosomal recessive

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

ORPHA:231556Заболевание
Unknown