MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
727 diseases matched (Clin. sub.) Reset

Furuncular myiasis due to Dermatobia hominis

ORPHA:563684Clin. sub.

GM1 gangliosidosis type 1

ORPHA:79255Clin. sub.
Autosomal recessive

GM1 gangliosidosis type 2

ORPHA:79256Clin. sub.
Autosomal recessive

GM1 gangliosidosis type 3

ORPHA:79257Clin. sub.
Autosomal recessive

GTP cyclohydrolase I deficiency

ORPHA:2102Clin. sub.
Autosomal recessive

Gamma-heavy chain disease

ORPHA:100026Clin. sub.

Gaucher disease type 1

ORPHA:77259Clin. sub.
Autosomal recessive

Gaucher disease type 2

ORPHA:77260Clin. sub.
Autosomal recessive

Gaucher disease type 3

ORPHA:77261Clin. sub.
Autosomal recessive

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

ORPHA:2072Clin. sub.
Autosomal recessive

Generalized galactose epimerase deficiency

ORPHA:308487Clin. sub.
Autosomal recessive

Generalized juvenile polyposis/juvenile polyposis coli

ORPHA:329971Clin. sub.
Autosomal dominant

Generalized pseudohypoaldosteronism type 1

ORPHA:171876Clin. sub.
Autosomal recessive

Genetic central precocious puberty in male

ORPHA:650097Clin. sub.

Germinoma of the central nervous system

ORPHA:91352Clin. sub.
Not applicable

Glutathione synthetase deficiency with 5-oxoprolinuria

ORPHA:289846Clin. sub.
Autosomal recessive

Glutathione synthetase deficiency without 5-oxoprolinuria

ORPHA:289849Clin. sub.
Autosomal recessive

Glycerol kinase deficiency, adult form

ORPHA:284414Clin. sub.
X-linked recessive

Glycerol kinase deficiency, juvenile form

ORPHA:284411Clin. sub.
X-linked recessive

Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552Clin. sub.
Autosomal recessive

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

ORPHA:420429Clin. sub.
Autosomal recessive

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

ORPHA:79258Clin. sub.
Autosomal recessive

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

ORPHA:79259Clin. sub.
Autosomal recessive

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

ORPHA:308712Clin. sub.
Autosomal recessive