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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 727 заболеваний (Клин. подт.) Сброс

Furuncular myiasis due to Dermatobia hominis

ORPHA:563684Клин. подт.

GM1 gangliosidosis type 1

ORPHA:79255Клин. подт.
Autosomal recessive

GM1 gangliosidosis type 2

ORPHA:79256Клин. подт.
Autosomal recessive

GM1 gangliosidosis type 3

ORPHA:79257Клин. подт.
Autosomal recessive

GTP cyclohydrolase I deficiency

ORPHA:2102Клин. подт.
Autosomal recessive

Gamma-heavy chain disease

ORPHA:100026Клин. подт.

Gaucher disease type 1

ORPHA:77259Клин. подт.
Autosomal recessive

Gaucher disease type 2

ORPHA:77260Клин. подт.
Autosomal recessive

Gaucher disease type 3

ORPHA:77261Клин. подт.
Autosomal recessive

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

ORPHA:2072Клин. подт.
Autosomal recessive

Generalized galactose epimerase deficiency

ORPHA:308487Клин. подт.
Autosomal recessive

Generalized juvenile polyposis/juvenile polyposis coli

ORPHA:329971Клин. подт.
Autosomal dominant

Generalized pseudohypoaldosteronism type 1

ORPHA:171876Клин. подт.
Autosomal recessive

Genetic central precocious puberty in male

ORPHA:650097Клин. подт.

Germinoma of the central nervous system

ORPHA:91352Клин. подт.
Not applicable

Glutathione synthetase deficiency with 5-oxoprolinuria

ORPHA:289846Клин. подт.
Autosomal recessive

Glutathione synthetase deficiency without 5-oxoprolinuria

ORPHA:289849Клин. подт.
Autosomal recessive

Glycerol kinase deficiency, adult form

ORPHA:284414Клин. подт.
X-linked recessive

Glycerol kinase deficiency, juvenile form

ORPHA:284411Клин. подт.
X-linked recessive

Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552Клин. подт.
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency, late-onset

ORPHA:420429Клин. подт.
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

ORPHA:79258Клин. подт.
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

ORPHA:79259Клин. подт.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

ORPHA:308712Клин. подт.
Autosomal recessive