MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 727 заболеваний (Клин. подтип)Сбросить

Furuncular myiasis due to Dermatobia hominis

ORPHA:563684Клин. подтип

GM1 gangliosidosis type 1

ORPHA:79255Клин. подтип
Autosomal recessive

GM1 gangliosidosis type 2

ORPHA:79256Клин. подтип
Autosomal recessive

GM1 gangliosidosis type 3

ORPHA:79257Клин. подтип
Autosomal recessive

GTP cyclohydrolase I deficiency

ORPHA:2102Клин. подтип
Autosomal recessive

Gamma-heavy chain disease

ORPHA:100026Клин. подтип

Gaucher disease type 1

ORPHA:77259Клин. подтип
Autosomal recessive

Gaucher disease type 2

ORPHA:77260Клин. подтип
Autosomal recessive

Gaucher disease type 3

ORPHA:77261Клин. подтип
Autosomal recessive

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

ORPHA:2072Клин. подтип
Autosomal recessive

Generalized galactose epimerase deficiency

ORPHA:308487Клин. подтип
Autosomal recessive

Generalized juvenile polyposis/juvenile polyposis coli

ORPHA:329971Клин. подтип
Autosomal dominant

Generalized pseudohypoaldosteronism type 1

ORPHA:171876Клин. подтип
Autosomal recessive

Genetic central precocious puberty in male

ORPHA:650097Клин. подтип

Germinoma of the central nervous system

ORPHA:91352Клин. подтип
Not applicable

Glutathione synthetase deficiency with 5-oxoprolinuria

ORPHA:289846Клин. подтип
Autosomal recessive

Glutathione synthetase deficiency without 5-oxoprolinuria

ORPHA:289849Клин. подтип
Autosomal recessive

Glycerol kinase deficiency, adult form

ORPHA:284414Клин. подтип
X-linked recessive

Glycerol kinase deficiency, juvenile form

ORPHA:284411Клин. подтип
X-linked recessive

Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552Клин. подтип
Autosomal recessive

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

ORPHA:420429Клин. подтип
Autosomal recessive

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

ORPHA:79258Клин. подтип
Autosomal recessive

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

ORPHA:79259Клин. подтип
Autosomal recessive

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

ORPHA:308712Клин. подтип
Autosomal recessive